Canonical Allele Identifier: CA1345068766

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144681_10144682delinsTC , CM000665.2:g.10144681_10144682delinsTC	GRCh38
NC_000003.11:g.10186365_10186366delinsTC , CM000665.1:g.10186365_10186366delinsTC	GRCh37
NC_000003.10:g.10161365_10161366delinsTC	NCBI36
NG_008212.3:g.8047_8048delinsTC , LRG_322:g.8047_8048delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*17+1660_*17+1661delinsTC	ENSP00000512434.1:n.*17+1660_*17+1661delinsTC
ENST00000696143.1:c.599+1660_599+1661delinsTC	ENSP00000512435.1:n.599+1660_599+1661delinsTC
ENST00000696153.1:c.341-1833_341-1832delinsTC	ENSP00000512444.1:n.341-1833_341-1832delinsTC
ENST00000256474.3:c.341-1833_341-1832delinsTC MANE Select	ENSP00000256474.3:n.341-1833_341-1832delinsTC
ENST00000256474.2:c.341-1833_341-1832delinsTC	ENSP00000256474.2:n.341-1833_341-1832delinsTC
ENST00000345392.2:c.340+2494_340+2495delinsTC	ENSP00000344757.2:n.340+2494_340+2495delinsTC
ENST00000477538.1:n.476+1660_476+1661delinsTC
NM_000551.3:c.341-1833_341-1832delinsTC , LRG_322t1:c.341-1833_341-1832delinsTC	NP_000542.1:n.341-1833_341-1832delinsTC
NM_198156.2:c.340+2494_340+2495delinsTC	NP_937799.1:n.340+2494_340+2495delinsTC
XM_011534078.1:c.*17+1660_*17+1661delinsTC	XP_011532380.1:n.*17+1660_*17+1661delinsTC
NM_001354723.1:c.*17+1660_*17+1661delinsTC	NP_001341652.1:n.*17+1660_*17+1661delinsTC
NM_000551.4:c.341-1833_341-1832delinsTC MANE Select	NP_000542.1:n.341-1833_341-1832delinsTC
NM_001354723.2:c.*17+1660_*17+1661delinsTC	NP_001341652.1:n.*17+1660_*17+1661delinsTC
NM_198156.3:c.340+2494_340+2495delinsTC	NP_937799.1:n.340+2494_340+2495delinsTC