Canonical Allele Identifier: CA1345059204

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146903_10146905delinsTTG , CM000665.2:g.10146903_10146905delinsTTG	GRCh38
NC_000003.11:g.10188587_10188589delinsTTG , CM000665.1:g.10188587_10188589delinsTTG	GRCh37
NC_000003.10:g.10163587_10163589delinsTTG	NCBI36
NG_008212.3:g.10269_10271delinsTTG , LRG_322:g.10269_10271delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*140+267_*140+269delinsTTG	ENSP00000512434.1:n.*140+267_*140+269delinsTTG
ENST00000696143.1:c.600-2884_600-2882delinsTTG	ENSP00000512435.1:n.600-2884_600-2882delinsTTG
ENST00000696153.1:c.463+267_463+269delinsTTG	ENSP00000512444.1:n.463+267_463+269delinsTTG
ENST00000256474.3:c.463+267_463+269delinsTTG MANE Select	ENSP00000256474.3:n.463+267_463+269delinsTTG
ENST00000256474.2:c.463+267_463+269delinsTTG	ENSP00000256474.2:n.463+267_463+269delinsTTG
ENST00000345392.2:c.341-2884_341-2882delinsTTG	ENSP00000344757.2:n.341-2884_341-2882delinsTTG
ENST00000477538.1:n.599+267_599+269delinsTTG
NM_000551.3:c.463+267_463+269delinsTTG , LRG_322t1:c.463+267_463+269delinsTTG	NP_000542.1:n.463+267_463+269delinsTTG
NM_198156.2:c.341-2884_341-2882delinsTTG	NP_937799.1:n.341-2884_341-2882delinsTTG
NM_001354723.1:c.*18-2884_*18-2882delinsTTG	NP_001341652.1:n.*18-2884_*18-2882delinsTTG
NM_000551.4:c.463+267_463+269delinsTTG MANE Select	NP_000542.1:n.463+267_463+269delinsTTG
NM_001354723.2:c.*18-2884_*18-2882delinsTTG	NP_001341652.1:n.*18-2884_*18-2882delinsTTG
NM_198156.3:c.341-2884_341-2882delinsTTG	NP_937799.1:n.341-2884_341-2882delinsTTG