Canonical Allele Identifier: CA645529548

Gene: VHL

Linked Data

• COSMIC: COSM17793

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149882_10149883del , CM000665.2:g.10149882_10149883del	GRCh38
NC_000003.11:g.10191566_10191567del , CM000665.1:g.10191566_10191567del	GRCh37
NC_000003.10:g.10166566_10166567del	NCBI36
NG_008212.3:g.13248_13249del , LRG_322:g.13248_13249del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*236_*237del	ENSP00000512434.1:n.*236_*237del
ENST00000696143.1:c.695_696del	ENSP00000512435.1:n.695_696del
ENST00000696153.1:c.670_671del	ENSP00000512444.1:p.Asp224SerfsTer?
ENST00000256474.3:c.559_560del MANE Select	ENSP00000256474.3:p.Asp187SerfsTer?
ENST00000256474.2:c.559_560del	ENSP00000256474.2:p.Asp187SerfsTer?
ENST00000345392.2:c.436_437del	ENSP00000344757.2:p.Asp146SerfsTer?
ENST00000477538.1:n.695_696del
NM_000551.3:c.559_560del , LRG_322t1:c.559_560del	NP_000542.1:p.Asp187SerfsTer?
NM_198156.2:c.436_437del	NP_937799.1:p.Asp146SerfsTer?
NM_001354723.1:c.*113_*114del	NP_001341652.1:n.*113_*114del
NM_000551.4:c.559_560del MANE Select	NP_000542.1:p.Asp187SerfsTer?
NM_001354723.2:c.*113_*114del	NP_001341652.1:n.*113_*114del
NM_198156.3:c.436_437del	NP_937799.1:p.Asp146SerfsTer?