Canonical Allele Identifier: CA2573130359

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149798_10149799insTTT , CM000665.2:g.10149798_10149799insTTT	GRCh38
NC_000003.11:g.10191482_10191483insTTT , CM000665.1:g.10191482_10191483insTTT	GRCh37
NC_000003.10:g.10166482_10166483insTTT	NCBI36
NG_008212.3:g.13164_13165insTTT , LRG_322:g.13164_13165insTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*152_*153insTTT	ENSP00000512434.1:n.*152_*153insTTT
ENST00000696143.1:c.611_612insTTT	ENSP00000512435.1:n.611_612insTTT
ENST00000696153.1:c.586_587insTTT	ENSP00000512444.1:p.Lys196IlefsTer2
ENST00000256474.3:c.475_476insTTT MANE Select	ENSP00000256474.3:p.Lys159IlefsTer2
ENST00000256474.2:c.475_476insTTT	ENSP00000256474.2:p.Lys159IlefsTer2
ENST00000345392.2:c.352_353insTTT	ENSP00000344757.2:p.Lys118IlefsTer2
ENST00000477538.1:n.611_612insTTT
NM_000551.3:c.475_476insTTT , LRG_322t1:c.475_476insTTT	NP_000542.1:p.Lys159IlefsTer2
NM_198156.2:c.352_353insTTT	NP_937799.1:p.Lys118IlefsTer2
NM_001354723.1:c.*29_*30insTTT	NP_001341652.1:n.*29_*30insTTT
NM_000551.4:c.475_476insTTT MANE Select	NP_000542.1:p.Lys159IlefsTer2
NM_001354723.2:c.*29_*30insTTT	NP_001341652.1:n.*29_*30insTTT
NM_198156.3:c.352_353insTTT	NP_937799.1:p.Lys118IlefsTer2