Canonical Allele Identifier: CA1345068856

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144832_10144834delinsCAT , CM000665.2:g.10144832_10144834delinsCAT	GRCh38
NC_000003.11:g.10186516_10186518delinsCAT , CM000665.1:g.10186516_10186518delinsCAT	GRCh37
NC_000003.10:g.10161516_10161518delinsCAT	NCBI36
NG_008212.3:g.8198_8200delinsCAT , LRG_322:g.8198_8200delinsCAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*18-1682_*18-1680delinsCAT	ENSP00000512434.1:n.*18-1682_*18-1680delinsCAT
ENST00000696143.1:c.599+1811_599+1813delinsCAT	ENSP00000512435.1:n.599+1811_599+1813delinsCAT
ENST00000696153.1:c.341-1682_341-1680delinsCAT	ENSP00000512444.1:n.341-1682_341-1680delinsCAT
ENST00000256474.3:c.341-1682_341-1680delinsCAT MANE Select	ENSP00000256474.3:n.341-1682_341-1680delinsCAT
ENST00000256474.2:c.341-1682_341-1680delinsCAT	ENSP00000256474.2:n.341-1682_341-1680delinsCAT
ENST00000345392.2:c.340+2645_340+2647delinsCAT	ENSP00000344757.2:n.340+2645_340+2647delinsCAT
ENST00000477538.1:n.477-1682_477-1680delinsCAT
NM_000551.3:c.341-1682_341-1680delinsCAT , LRG_322t1:c.341-1682_341-1680delinsCAT	NP_000542.1:n.341-1682_341-1680delinsCAT
NM_198156.2:c.340+2645_340+2647delinsCAT	NP_937799.1:n.340+2645_340+2647delinsCAT
XM_011534078.1:c.*18-1682_*18-1680delinsCAT	XP_011532380.1:n.*18-1682_*18-1680delinsCAT
NM_001354723.1:c.*17+1811_*17+1813delinsCAT	NP_001341652.1:n.*17+1811_*17+1813delinsCAT
NM_000551.4:c.341-1682_341-1680delinsCAT MANE Select	NP_000542.1:n.341-1682_341-1680delinsCAT
NM_001354723.2:c.*17+1811_*17+1813delinsCAT	NP_001341652.1:n.*17+1811_*17+1813delinsCAT
NM_198156.3:c.340+2645_340+2647delinsCAT	NP_937799.1:n.340+2645_340+2647delinsCAT