Canonical Allele Identifier: CA645525031

Gene: VHL

Linked Data

• COSMIC: COSM18332

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149787_10149788delinsGC , CM000665.2:g.10149787_10149788delinsGC	GRCh38
NC_000003.11:g.10191471_10191472delinsGC , CM000665.1:g.10191471_10191472delinsGC	GRCh37
NC_000003.10:g.10166471_10166472delinsGC	NCBI36
NG_008212.3:g.13153_13154delinsGC , LRG_322:g.13153_13154delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*141_*142delinsGC	ENSP00000512434.1:n.*141_*142delinsGC
ENST00000696143.1:c.600_601delinsGC	ENSP00000512435.1:n.600_601delinsGC
ENST00000696153.1:c.575_576delinsGC	ENSP00000512444.1:p.Val192Gly
ENST00000256474.3:c.464_465delinsGC MANE Select	ENSP00000256474.3:p.Val155Gly
ENST00000256474.2:c.464_465delinsGC	ENSP00000256474.2:p.Val155Gly
ENST00000345392.2:c.341_342delinsGC	ENSP00000344757.2:p.Val114Gly
ENST00000477538.1:n.600_601delinsGC
NM_000551.3:c.464_465delinsGC , LRG_322t1:c.464_465delinsGC	NP_000542.1:p.Val155Gly
NM_198156.2:c.341_342delinsGC	NP_937799.1:p.Val114Gly
NM_001354723.1:c.*18_*19delinsGC	NP_001341652.1:n.*18_*19delinsGC
NM_000551.4:c.464_465delinsGC MANE Select	NP_000542.1:p.Val155Gly
NM_001354723.2:c.*18_*19delinsGC	NP_001341652.1:n.*18_*19delinsGC
NM_198156.3:c.341_342delinsGC	NP_937799.1:p.Val114Gly