Canonical Allele Identifier: CA645525045

Gene: VHL

Linked Data

• COSMIC: COSM18144

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149795_10149800del , CM000665.2:g.10149795_10149800del	GRCh38
NC_000003.11:g.10191479_10191484del , CM000665.1:g.10191479_10191484del	GRCh37
NC_000003.10:g.10166479_10166484del	NCBI36
NG_008212.3:g.13161_13166del , LRG_322:g.13161_13166del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*149_*154del	ENSP00000512434.1:n.*149_*154del
ENST00000696143.1:c.608_613del	ENSP00000512435.1:n.608_613del
ENST00000696153.1:c.583_588del	ENSP00000512444.1:p.Leu195_Lys196del
ENST00000256474.3:c.472_477del MANE Select	ENSP00000256474.3:p.Leu158_Lys159del
ENST00000256474.2:c.472_477del	ENSP00000256474.2:p.Leu158_Lys159del
ENST00000345392.2:c.349_354del	ENSP00000344757.2:p.Leu117_Lys118del
ENST00000477538.1:n.608_613del
NM_000551.3:c.472_477del , LRG_322t1:c.472_477del	NP_000542.1:p.Leu158_Lys159del
NM_198156.2:c.349_354del	NP_937799.1:p.Leu117_Lys118del
NM_001354723.1:c.*26_*31del	NP_001341652.1:n.*26_*31del
NM_000551.4:c.472_477del MANE Select	NP_000542.1:p.Leu158_Lys159del
NM_001354723.2:c.*26_*31del	NP_001341652.1:n.*26_*31del
NM_198156.3:c.349_354del	NP_937799.1:p.Leu117_Lys118del