Canonical Allele Identifier: CA645524762

Gene: VHL

Linked Data

• COSMIC: COSM4189176

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142095_10142096insAT , CM000665.2:g.10142095_10142096insAT	GRCh38
NC_000003.11:g.10183779_10183780insAT , CM000665.1:g.10183779_10183780insAT	GRCh37
NC_000003.10:g.10158779_10158780insAT	NCBI36
NG_008212.3:g.5461_5462insAT , LRG_322:g.5461_5462insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.248_249insAT	ENSP00000512434.1:p.Val84SerfsTer?
ENST00000696143.1:c.248_249insAT	ENSP00000512435.1:p.Val84SerfsTer?
ENST00000696153.1:c.248_249insAT	ENSP00000512444.1:p.Val84SerfsTer?
ENST00000256474.3:c.248_249insAT MANE Select	ENSP00000256474.3:p.Val84SerfsTer?
ENST00000256474.2:c.248_249insAT	ENSP00000256474.2:p.Val84SerfsTer?
ENST00000345392.2:c.248_249insAT	ENSP00000344757.2:p.Val84SerfsTer?
NM_000551.3:c.248_249insAT , LRG_322t1:c.248_249insAT	NP_000542.1:p.Val84SerfsTer?
NM_198156.2:c.248_249insAT	NP_937799.1:p.Val84SerfsTer?
XM_011534078.1:c.248_249insAT	XP_011532380.1:p.Val84SerfsTer?
NM_001354723.1:c.248_249insAT	NP_001341652.1:p.Val84SerfsTer?
NM_000551.4:c.248_249insAT MANE Select	NP_000542.1:p.Val84SerfsTer?
NM_001354723.2:c.248_249insAT	NP_001341652.1:p.Val84SerfsTer?
NM_198156.3:c.248_249insAT	NP_937799.1:p.Val84SerfsTer?