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(Q105027162)
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VHL Q96_P97delinsH (c.288_290del)
genetic variant
Q96_P97delinsH (c.288_290del)
C.288DELGCC
C.288_290DELGCC
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No description defined
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Statements
instance of
disruptive inframe deletion
1 reference
stated in
CIViC database
retrieved
25 February 2022
reference URL
https://civic.genome.wustl.edu/links/variants/3246
chromosome
human chromosome 3
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
25 February 2022
reference URL
https://civic.genome.wustl.edu/links/variants/3246
genomic start
10183819
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
25 February 2022
reference URL
https://civic.genome.wustl.edu/links/variants/3246
genomic end
10183821
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
25 February 2022
reference URL
https://civic.genome.wustl.edu/links/variants/3246
biological variant of
VHL
1 reference
stated in
CIViC database
retrieved
25 February 2022
reference URL
https://civic.genome.wustl.edu/links/variants/3246
Identifiers
CIViC variant ID
3246
1 reference
stated in
CIViC database
retrieved
25 February 2022
reference URL
https://civic.genome.wustl.edu/links/variants/3246
HGVS nomenclature
NC_000003.12:g.10142135_10142137del
1 reference
stated in
CIViC database
retrieved
25 February 2022
reference URL
https://civic.genome.wustl.edu/links/variants/3246
NC_000003.11:g.10183819_10183821del
1 reference
stated in
CIViC database
retrieved
25 February 2022
reference URL
https://civic.genome.wustl.edu/links/variants/3246
NM_000551.3:c.288_290del
1 reference
stated in
CIViC database
retrieved
25 February 2022
reference URL
https://civic.genome.wustl.edu/links/variants/3246
NP_000542.1:p.Gln96_Pro97delinsHis
1 reference
stated in
CIViC database
retrieved
25 February 2022
reference URL
https://civic.genome.wustl.edu/links/variants/3246
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