Canonical Allele Identifier: CA645524963

Gene: VHL

Linked Data

• COSMIC: COSM18390

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146594_10146595insT , CM000665.2:g.10146594_10146595insT	GRCh38
NC_000003.11:g.10188278_10188279insT , CM000665.1:g.10188278_10188279insT	GRCh37
NC_000003.10:g.10163278_10163279insT	NCBI36
NG_008212.3:g.9960_9961insT , LRG_322:g.9960_9961insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*98_*99insT	ENSP00000512434.1:n.*98_*99insT
ENST00000696143.1:c.600-3193_600-3192insT	ENSP00000512435.1:n.600-3193_600-3192insT
ENST00000696153.1:c.421_422insT	ENSP00000512444.1:p.Asn141IlefsTer3
ENST00000256474.3:c.421_422insT MANE Select	ENSP00000256474.3:p.Asn141IlefsTer3
ENST00000256474.2:c.421_422insT	ENSP00000256474.2:p.Asn141IlefsTer3
ENST00000345392.2:c.341-3193_341-3192insT	ENSP00000344757.2:n.341-3193_341-3192insT
ENST00000477538.1:n.557_558insT
NM_000551.3:c.421_422insT , LRG_322t1:c.421_422insT	NP_000542.1:p.Asn141IlefsTer3
NM_198156.2:c.341-3193_341-3192insT	NP_937799.1:n.341-3193_341-3192insT
XM_011534078.1:c.*98_*99insT	XP_011532380.1:n.*98_*99insT
NM_001354723.1:c.*18-3193_*18-3192insT	NP_001341652.1:n.*18-3193_*18-3192insT
NM_000551.4:c.421_422insT MANE Select	NP_000542.1:p.Asn141IlefsTer3
NM_001354723.2:c.*18-3193_*18-3192insT	NP_001341652.1:n.*18-3193_*18-3192insT
NM_198156.3:c.341-3193_341-3192insT	NP_937799.1:n.341-3193_341-3192insT