Canonical Allele Identifier: CA1345068765

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144680_10144682delinsTTC , CM000665.2:g.10144680_10144682delinsTTC	GRCh38
NC_000003.11:g.10186364_10186366delinsTTC , CM000665.1:g.10186364_10186366delinsTTC	GRCh37
NC_000003.10:g.10161364_10161366delinsTTC	NCBI36
NG_008212.3:g.8046_8048delinsTTC , LRG_322:g.8046_8048delinsTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*17+1659_*17+1661delinsTTC	ENSP00000512434.1:n.*17+1659_*17+1661delinsTTC
ENST00000696143.1:c.599+1659_599+1661delinsTTC	ENSP00000512435.1:n.599+1659_599+1661delinsTTC
ENST00000696153.1:c.341-1834_341-1832delinsTTC	ENSP00000512444.1:n.341-1834_341-1832delinsTTC
ENST00000256474.3:c.341-1834_341-1832delinsTTC MANE Select	ENSP00000256474.3:n.341-1834_341-1832delinsTTC
ENST00000256474.2:c.341-1834_341-1832delinsTTC	ENSP00000256474.2:n.341-1834_341-1832delinsTTC
ENST00000345392.2:c.340+2493_340+2495delinsTTC	ENSP00000344757.2:n.340+2493_340+2495delinsTTC
ENST00000477538.1:n.476+1659_476+1661delinsTTC
NM_000551.3:c.341-1834_341-1832delinsTTC , LRG_322t1:c.341-1834_341-1832delinsTTC	NP_000542.1:n.341-1834_341-1832delinsTTC
NM_198156.2:c.340+2493_340+2495delinsTTC	NP_937799.1:n.340+2493_340+2495delinsTTC
XM_011534078.1:c.*17+1659_*17+1661delinsTTC	XP_011532380.1:n.*17+1659_*17+1661delinsTTC
NM_001354723.1:c.*17+1659_*17+1661delinsTTC	NP_001341652.1:n.*17+1659_*17+1661delinsTTC
NM_000551.4:c.341-1834_341-1832delinsTTC MANE Select	NP_000542.1:n.341-1834_341-1832delinsTTC
NM_001354723.2:c.*17+1659_*17+1661delinsTTC	NP_001341652.1:n.*17+1659_*17+1661delinsTTC
NM_198156.3:c.340+2493_340+2495delinsTTC	NP_937799.1:n.340+2493_340+2495delinsTTC