Canonical Allele Identifier: CA1044996399

Gene: VHL

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144499_10144514dup , CM000665.2:g.10144499_10144514dup	GRCh38
NC_000003.11:g.10186183_10186198dup , CM000665.1:g.10186183_10186198dup	GRCh37
NC_000003.10:g.10161183_10161198dup	NCBI36
NG_008212.3:g.7865_7880dup , LRG_322:g.7865_7880dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1478_*17+1493dup	ENSP00000512434.1:n.*17+1478_*17+1493dup
ENST00000696143.1:c.599+1478_599+1493dup	ENSP00000512435.1:n.599+1478_599+1493dup
ENST00000696153.1:c.341-2015_341-2000dup	ENSP00000512444.1:n.341-2015_341-2000dup
ENST00000256474.3:c.341-2015_341-2000dup MANE Select	ENSP00000256474.3:n.341-2015_341-2000dup
ENST00000256474.2:c.341-2015_341-2000dup	ENSP00000256474.2:n.341-2015_341-2000dup
ENST00000345392.2:c.340+2312_340+2327dup	ENSP00000344757.2:n.340+2312_340+2327dup
ENST00000477538.1:n.476+1478_476+1493dup
NM_000551.3:c.341-2015_341-2000dup , LRG_322t1:c.341-2015_341-2000dup	NP_000542.1:n.341-2015_341-2000dup
NM_198156.2:c.340+2312_340+2327dup	NP_937799.1:n.340+2312_340+2327dup
XM_011534078.1:c.*17+1478_*17+1493dup	XP_011532380.1:n.*17+1478_*17+1493dup
NM_001354723.1:c.*17+1478_*17+1493dup	NP_001341652.1:n.*17+1478_*17+1493dup
NM_000551.4:c.341-2015_341-2000dup MANE Select	NP_000542.1:n.341-2015_341-2000dup
NM_001354723.2:c.*17+1478_*17+1493dup	NP_001341652.1:n.*17+1478_*17+1493dup
NM_198156.3:c.340+2312_340+2327dup	NP_937799.1:n.340+2312_340+2327dup