Canonical Allele Identifier: CA645525064
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM14381
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149811_10149812delinsCT , CM000665.2:g.10149811_10149812delinsCT GRCh38
NC_000003.11:g.10191495_10191496delinsCT , CM000665.1:g.10191495_10191496delinsCT GRCh37
NC_000003.10:g.10166495_10166496delinsCT NCBI36
NG_008212.3:g.13177_13178delinsCT , LRG_322:g.13177_13178delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*165_*166delinsCT ENSP00000512434.1:n.*165_*166delinsCT
ENST00000696143.1:c.624_625delinsCT ENSP00000512435.1:n.624_625delinsCT
ENST00000696153.1:c.599_600delinsCT ENSP00000512444.1:p.Leu200Pro
ENST00000256474.3:c.488_489delinsCT MANE Select ENSP00000256474.3:p.Leu163Pro
ENST00000256474.2:c.488_489delinsCT ENSP00000256474.2:p.Leu163Pro
ENST00000345392.2:c.365_366delinsCT ENSP00000344757.2:p.Leu122Pro
ENST00000477538.1:n.624_625delinsCT
NM_000551.3:c.488_489delinsCT , LRG_322t1:c.488_489delinsCT NP_000542.1:p.Leu163Pro
NM_198156.2:c.365_366delinsCT NP_937799.1:p.Leu122Pro
NM_001354723.1:c.*42_*43delinsCT NP_001341652.1:n.*42_*43delinsCT
NM_000551.4:c.488_489delinsCT MANE Select NP_000542.1:p.Leu163Pro
NM_001354723.2:c.*42_*43delinsCT NP_001341652.1:n.*42_*43delinsCT
NM_198156.3:c.365_366delinsCT NP_937799.1:p.Leu122Pro
Search 100 bp 5'
Search 100 bp 3'