Canonical Allele Identifier: CA1345067306

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142872_10142874delinsTGG , CM000665.2:g.10142872_10142874delinsTGG	GRCh38
NC_000003.11:g.10184556_10184558delinsTGG , CM000665.1:g.10184556_10184558delinsTGG	GRCh37
NC_000003.10:g.10159556_10159558delinsTGG	NCBI36
NG_008212.3:g.6238_6240delinsTGG , LRG_322:g.6238_6240delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.450_452delinsTGG	ENSP00000512434.1:p.Val150=
ENST00000696143.1:c.450_452delinsTGG	ENSP00000512435.1:p.Val150=
ENST00000696153.1:c.340+685_340+687delinsTGG	ENSP00000512444.1:n.340+685_340+687delinsTGG
ENST00000256474.3:c.340+685_340+687delinsTGG MANE Select	ENSP00000256474.3:n.340+685_340+687delinsTGG
ENST00000256474.2:c.340+685_340+687delinsTGG	ENSP00000256474.2:n.340+685_340+687delinsTGG
ENST00000345392.2:c.340+685_340+687delinsTGG	ENSP00000344757.2:n.340+685_340+687delinsTGG
ENST00000477538.1:n.327_329delinsTGG
NM_000551.3:c.340+685_340+687delinsTGG , LRG_322t1:c.340+685_340+687delinsTGG	NP_000542.1:n.340+685_340+687delinsTGG
NM_198156.2:c.340+685_340+687delinsTGG	NP_937799.1:n.340+685_340+687delinsTGG
XM_011534078.1:c.450_452delinsTGG	XP_011532380.1:p.Val150=
NM_001354723.1:c.450_452delinsTGG	NP_001341652.1:p.Val150=
NM_000551.4:c.340+685_340+687delinsTGG MANE Select	NP_000542.1:n.340+685_340+687delinsTGG
NM_001354723.2:c.450_452delinsTGG	NP_001341652.1:p.Val150=
NM_198156.3:c.340+685_340+687delinsTGG	NP_937799.1:n.340+685_340+687delinsTGG