Canonical Allele Identifier: CA540876157

Gene: VHL

Linked Data

• dbSNP Id: rs1356333466
• gnomAD v2: 3-10186000-A-AAAG
• gnomAD v3: 3-10144316-A-AAAG
• gnomAD v4: 3-10144316-A-AAAG
• MyVariant Identifiers: chr3:g.10186000_10186001insAAG (hg19) ; chr3:g.10144316_10144317insAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144318_10144319insGAA , CM000665.2:g.10144318_10144319insGAA	GRCh38
NC_000003.11:g.10186002_10186003insGAA , CM000665.1:g.10186002_10186003insGAA	GRCh37
NC_000003.10:g.10161002_10161003insGAA	NCBI36
NG_008212.3:g.7684_7685insGAA , LRG_322:g.7684_7685insGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1297_*17+1298insGAA	ENSP00000512434.1:n.*17+1297_*17+1298insGAA
ENST00000696143.1:c.599+1297_599+1298insGAA	ENSP00000512435.1:n.599+1297_599+1298insGAA
ENST00000696153.1:c.340+2131_340+2132insGAA	ENSP00000512444.1:n.340+2131_340+2132insGAA
ENST00000256474.3:c.340+2131_340+2132insGAA MANE Select	ENSP00000256474.3:n.340+2131_340+2132insGAA
ENST00000256474.2:c.340+2131_340+2132insGAA	ENSP00000256474.2:n.340+2131_340+2132insGAA
ENST00000345392.2:c.340+2131_340+2132insGAA	ENSP00000344757.2:n.340+2131_340+2132insGAA
ENST00000477538.1:n.476+1297_476+1298insGAA
NM_000551.3:c.340+2131_340+2132insGAA , LRG_322t1:c.340+2131_340+2132insGAA	NP_000542.1:n.340+2131_340+2132insGAA
NM_198156.2:c.340+2131_340+2132insGAA	NP_937799.1:n.340+2131_340+2132insGAA
XM_011534078.1:c.*17+1297_*17+1298insGAA	XP_011532380.1:n.*17+1297_*17+1298insGAA
NM_001354723.1:c.*17+1297_*17+1298insGAA	NP_001341652.1:n.*17+1297_*17+1298insGAA
NM_000551.4:c.340+2131_340+2132insGAA MANE Select	NP_000542.1:n.340+2131_340+2132insGAA
NM_001354723.2:c.*17+1297_*17+1298insGAA	NP_001341652.1:n.*17+1297_*17+1298insGAA
NM_198156.3:c.340+2131_340+2132insGAA	NP_937799.1:n.340+2131_340+2132insGAA