Canonical Allele Identifier: CA645529539

Gene: VHL

Linked Data

• COSMIC: COSM3734707

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149873_10149882del , CM000665.2:g.10149873_10149882del	GRCh38
NC_000003.11:g.10191557_10191566del , CM000665.1:g.10191557_10191566del	GRCh37
NC_000003.10:g.10166557_10166566del	NCBI36
NG_008212.3:g.13239_13248del , LRG_322:g.13239_13248del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*227_*236del	ENSP00000512434.1:n.*227_*236del
ENST00000696143.1:c.686_695del	ENSP00000512435.1:n.686_695del
ENST00000696153.1:c.661_670del	ENSP00000512444.1:p.Leu221IlefsTer15
ENST00000256474.3:c.550_559del MANE Select	ENSP00000256474.3:p.Leu184IlefsTer15
ENST00000256474.2:c.550_559del	ENSP00000256474.2:p.Leu184IlefsTer15
ENST00000345392.2:c.427_436del	ENSP00000344757.2:p.Leu143IlefsTer15
ENST00000477538.1:n.686_695del
NM_000551.3:c.550_559del , LRG_322t1:c.550_559del	NP_000542.1:p.Leu184IlefsTer15
NM_198156.2:c.427_436del	NP_937799.1:p.Leu143IlefsTer15
NM_001354723.1:c.*104_*113del	NP_001341652.1:n.*104_*113del
NM_000551.4:c.550_559del MANE Select	NP_000542.1:p.Leu184IlefsTer15
NM_001354723.2:c.*104_*113del	NP_001341652.1:n.*104_*113del
NM_198156.3:c.427_436del	NP_937799.1:p.Leu143IlefsTer15