Canonical Allele Identifier: CA70049363

Gene: VHL

Linked Data

• dbSNP Id: rs879099742

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146516_10146517delinsT , CM000665.2:g.10146516_10146517delinsT	GRCh38
NC_000003.11:g.10188200_10188201delinsT , CM000665.1:g.10188200_10188201delinsT	GRCh37
NC_000003.10:g.10163200_10163201delinsT	NCBI36
NG_008212.3:g.9882_9883delinsT , LRG_322:g.9882_9883delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*20_*21delinsT	ENSP00000512434.1:n.*20_*21delinsT
ENST00000696143.1:c.600-3271_600-3270delinsT	ENSP00000512435.1:n.600-3271_600-3270delinsT
ENST00000696153.1:c.343_344delinsT	ENSP00000512444.1:p.His115SerfsTer?
ENST00000256474.3:c.343_344delinsT MANE Select	ENSP00000256474.3:p.His115SerfsTer?
ENST00000256474.2:c.343_344delinsT	ENSP00000256474.2:p.His115SerfsTer?
ENST00000345392.2:c.341-3271_341-3270delinsT	ENSP00000344757.2:n.341-3271_341-3270delinsT
ENST00000477538.1:n.479_480delinsT
NM_000551.3:c.343_344delinsT , LRG_322t1:c.343_344delinsT	NP_000542.1:p.His115SerfsTer?
NM_198156.2:c.341-3271_341-3270delinsT	NP_937799.1:n.341-3271_341-3270delinsT
XM_011534078.1:c.*20_*21delinsT	XP_011532380.1:n.*20_*21delinsT
NM_001354723.1:c.*18-3271_*18-3270delinsT	NP_001341652.1:n.*18-3271_*18-3270delinsT
NM_000551.4:c.343_344delinsT MANE Select	NP_000542.1:p.His115SerfsTer?
NM_001354723.2:c.*18-3271_*18-3270delinsT	NP_001341652.1:n.*18-3271_*18-3270delinsT
NM_198156.3:c.341-3271_341-3270delinsT	NP_937799.1:n.341-3271_341-3270delinsT