Canonical Allele Identifier: CA432423654

Gene: VHL

Linked Data

• COSMIC: COSM1169477
• MyVariant Identifiers: chr3:g.10191566del (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*236del	ENSP00000512434.1:n.*236del
ENST00000696143.1:c.695del	ENSP00000512435.1:n.695del
ENST00000696153.1:c.670del	ENSP00000512444.1:p.Asp224IlefsTer15
ENST00000256474.3:c.559del MANE Select	ENSP00000256474.3:p.Asp187IlefsTer15
ENST00000256474.2:c.559del	ENSP00000256474.2:p.Asp187IlefsTer15
ENST00000345392.2:c.436del	ENSP00000344757.2:p.Asp146IlefsTer15
ENST00000477538.1:n.695del
NM_000551.3:c.559del , LRG_322t1:c.559del	NP_000542.1:p.Asp187IlefsTer15
NM_198156.2:c.436del	NP_937799.1:p.Asp146IlefsTer15
NM_001354723.1:c.*113del	NP_001341652.1:n.*113del
NM_000551.4:c.559del MANE Select	NP_000542.1:p.Asp187IlefsTer15
NM_001354723.2:c.*113del	NP_001341652.1:n.*113del
NM_198156.3:c.436del	NP_937799.1:p.Asp146IlefsTer15