Canonical Allele Identifier: CA1345067262

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142838_10142840delinsCAG , CM000665.2:g.10142838_10142840delinsCAG	GRCh38
NC_000003.11:g.10184522_10184524delinsCAG , CM000665.1:g.10184522_10184524delinsCAG	GRCh37
NC_000003.10:g.10159522_10159524delinsCAG	NCBI36
NG_008212.3:g.6204_6206delinsCAG , LRG_322:g.6204_6206delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.416_418delinsCAG	ENSP00000512434.1:p.Thr139=
ENST00000696143.1:c.416_418delinsCAG	ENSP00000512435.1:p.Thr139=
ENST00000696153.1:c.340+651_340+653delinsCAG	ENSP00000512444.1:n.340+651_340+653delinsCAG
ENST00000256474.3:c.340+651_340+653delinsCAG MANE Select	ENSP00000256474.3:n.340+651_340+653delinsCAG
ENST00000256474.2:c.340+651_340+653delinsCAG	ENSP00000256474.2:n.340+651_340+653delinsCAG
ENST00000345392.2:c.340+651_340+653delinsCAG	ENSP00000344757.2:n.340+651_340+653delinsCAG
ENST00000477538.1:n.293_295delinsCAG
NM_000551.3:c.340+651_340+653delinsCAG , LRG_322t1:c.340+651_340+653delinsCAG	NP_000542.1:n.340+651_340+653delinsCAG
NM_198156.2:c.340+651_340+653delinsCAG	NP_937799.1:n.340+651_340+653delinsCAG
XM_011534078.1:c.416_418delinsCAG	XP_011532380.1:p.Thr139=
NM_001354723.1:c.416_418delinsCAG	NP_001341652.1:p.Thr139=
NM_000551.4:c.340+651_340+653delinsCAG MANE Select	NP_000542.1:n.340+651_340+653delinsCAG
NM_001354723.2:c.416_418delinsCAG	NP_001341652.1:p.Thr139=
NM_198156.3:c.340+651_340+653delinsCAG	NP_937799.1:n.340+651_340+653delinsCAG