Canonical Allele Identifier: CA1044996412

Gene: VHL

Linked Data

• gnomAD v3: 3-10144496-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
• gnomAD v4: 3-10144496-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144514_10144515insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000665.2:g.10144514_10144515insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000003.11:g.10186198_10186199insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000665.1:g.10186198_10186199insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000003.10:g.10161198_10161199insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_008212.3:g.7880_7881insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_322:g.7880_7881insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000512434.1:n.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTT...
ENST00000696143.1:c.599+1493_599+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000512435.1:n.599+1493_599+1494insTTTTTTTTTTTTTTTTTTTTT...
ENST00000696153.1:c.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000512444.1:n.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTT...
ENST00000256474.3:c.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000256474.3:n.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTT...
ENST00000256474.2:c.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000256474.2:n.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTT...
ENST00000345392.2:c.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000344757.2:n.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTT...
ENST00000477538.1:n.476+1493_476+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_000551.3:c.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_322t1:c.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_000542.1:n.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_198156.2:c.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_937799.1:n.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_011534078.1:c.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011532380.1:n.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001354723.1:c.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001341652.1:n.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_000551.4:c.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_000542.1:n.341-2000_341-1999insTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001354723.2:c.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001341652.1:n.*17+1493_*17+1494insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_198156.3:c.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_937799.1:n.340+2327_340+2328insTTTTTTTTTTTTTTTTTTTTTTTTTTT...