Canonical Allele Identifier: CA645529551

Gene: VHL

Linked Data

• COSMIC: COSM5020687

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149883del , CM000665.2:g.10149883del	GRCh38
NC_000003.11:g.10191567del , CM000665.1:g.10191567del	GRCh37
NC_000003.10:g.10166567del	NCBI36
NG_008212.3:g.13249del , LRG_322:g.13249del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*237del	ENSP00000512434.1:n.*237del
ENST00000696143.1:c.696del	ENSP00000512435.1:n.696del
ENST00000696153.1:c.671del	ENSP00000512444.1:p.Asp224ValfsTer15
ENST00000256474.3:c.560del MANE Select	ENSP00000256474.3:p.Asp187ValfsTer15
ENST00000256474.2:c.560del	ENSP00000256474.2:p.Asp187ValfsTer15
ENST00000345392.2:c.437del	ENSP00000344757.2:p.Asp146ValfsTer15
ENST00000477538.1:n.696del
NM_000551.3:c.560del , LRG_322t1:c.560del	NP_000542.1:p.Asp187ValfsTer15
NM_198156.2:c.437del	NP_937799.1:p.Asp146ValfsTer15
NM_001354723.1:c.*114del	NP_001341652.1:n.*114del
NM_000551.4:c.560del MANE Select	NP_000542.1:p.Asp187ValfsTer15
NM_001354723.2:c.*114del	NP_001341652.1:n.*114del
NM_198156.3:c.437del	NP_937799.1:p.Asp146ValfsTer15