Canonical Allele Identifier: CA1345068859

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144835_10144836delinsGT , CM000665.2:g.10144835_10144836delinsGT	GRCh38
NC_000003.11:g.10186519_10186520delinsGT , CM000665.1:g.10186519_10186520delinsGT	GRCh37
NC_000003.10:g.10161519_10161520delinsGT	NCBI36
NG_008212.3:g.8201_8202delinsGT , LRG_322:g.8201_8202delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*18-1679_*18-1678delinsGT	ENSP00000512434.1:n.*18-1679_*18-1678delinsGT
ENST00000696143.1:c.599+1814_599+1815delinsGT	ENSP00000512435.1:n.599+1814_599+1815delinsGT
ENST00000696153.1:c.341-1679_341-1678delinsGT	ENSP00000512444.1:n.341-1679_341-1678delinsGT
ENST00000256474.3:c.341-1679_341-1678delinsGT MANE Select	ENSP00000256474.3:n.341-1679_341-1678delinsGT
ENST00000256474.2:c.341-1679_341-1678delinsGT	ENSP00000256474.2:n.341-1679_341-1678delinsGT
ENST00000345392.2:c.340+2648_340+2649delinsGT	ENSP00000344757.2:n.340+2648_340+2649delinsGT
ENST00000477538.1:n.477-1679_477-1678delinsGT
NM_000551.3:c.341-1679_341-1678delinsGT , LRG_322t1:c.341-1679_341-1678delinsGT	NP_000542.1:n.341-1679_341-1678delinsGT
NM_198156.2:c.340+2648_340+2649delinsGT	NP_937799.1:n.340+2648_340+2649delinsGT
XM_011534078.1:c.*18-1679_*18-1678delinsGT	XP_011532380.1:n.*18-1679_*18-1678delinsGT
NM_001354723.1:c.*17+1814_*17+1815delinsGT	NP_001341652.1:n.*17+1814_*17+1815delinsGT
NM_000551.4:c.341-1679_341-1678delinsGT MANE Select	NP_000542.1:n.341-1679_341-1678delinsGT
NM_001354723.2:c.*17+1814_*17+1815delinsGT	NP_001341652.1:n.*17+1814_*17+1815delinsGT
NM_198156.3:c.340+2648_340+2649delinsGT	NP_937799.1:n.340+2648_340+2649delinsGT