Canonical Allele Identifier: CA2592312618

Gene: VHL

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144514_10144515insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000665.2:g.10144514_10144515insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000003.11:g.10186198_10186199insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000665.1:g.10186198_10186199insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000003.10:g.10161198_10161199insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_008212.3:g.7880_7881insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_322:g.7880_7881insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

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