Canonical Allele Identifier: CA645525019

Gene: VHL

Linked Data

• COSMIC: COSM18141

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149770_10149784del , CM000665.2:g.10149770_10149784del	GRCh38
NC_000003.11:g.10191454_10191468del , CM000665.1:g.10191454_10191468del	GRCh37
NC_000003.10:g.10166454_10166468del	NCBI36
NG_008212.3:g.13136_13150del , LRG_322:g.13136_13150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*141-17_*141-3del	ENSP00000512434.1:n.*141-17_*141-3del
ENST00000696143.1:c.600-17_600-3del	ENSP00000512435.1:n.600-17_600-3del
ENST00000696153.1:c.575-17_575-3del	ENSP00000512444.1:n.575-17_575-3del
ENST00000256474.3:c.464-17_464-3del MANE Select	ENSP00000256474.3:n.464-17_464-3del
ENST00000256474.2:c.464-17_464-3del	ENSP00000256474.2:n.464-17_464-3del
ENST00000345392.2:c.341-17_341-3del	ENSP00000344757.2:n.341-17_341-3del
ENST00000477538.1:n.600-17_600-3del
NM_000551.3:c.464-17_464-3del , LRG_322t1:c.464-17_464-3del	NP_000542.1:n.464-17_464-3del
NM_198156.2:c.341-17_341-3del	NP_937799.1:n.341-17_341-3del
NM_001354723.1:c.*18-17_*18-3del	NP_001341652.1:n.*18-17_*18-3del
NM_000551.4:c.464-17_464-3del MANE Select	NP_000542.1:n.464-17_464-3del
NM_001354723.2:c.*18-17_*18-3del	NP_001341652.1:n.*18-17_*18-3del
NM_198156.3:c.341-17_341-3del	NP_937799.1:n.341-17_341-3del