Canonical Allele Identifier: CA1044996780

Gene: VHL

Linked Data

• gnomAD v3: 3-10144860-T-TTA
• gnomAD v4: 3-10144860-T-TTA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144860_10144861insTA , CM000665.2:g.10144860_10144861insTA	GRCh38
NC_000003.11:g.10186544_10186545insTA , CM000665.1:g.10186544_10186545insTA	GRCh37
NC_000003.10:g.10161544_10161545insTA	NCBI36
NG_008212.3:g.8226_8227insTA , LRG_322:g.8226_8227insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*18-1654_*18-1653insTA	ENSP00000512434.1:n.*18-1654_*18-1653insTA
ENST00000696143.1:c.599+1839_599+1840insTA	ENSP00000512435.1:n.599+1839_599+1840insTA
ENST00000696153.1:c.341-1654_341-1653insTA	ENSP00000512444.1:n.341-1654_341-1653insTA
ENST00000256474.3:c.341-1654_341-1653insTA MANE Select	ENSP00000256474.3:n.341-1654_341-1653insTA
ENST00000256474.2:c.341-1654_341-1653insTA	ENSP00000256474.2:n.341-1654_341-1653insTA
ENST00000345392.2:c.340+2673_340+2674insTA	ENSP00000344757.2:n.340+2673_340+2674insTA
ENST00000477538.1:n.477-1654_477-1653insTA
NM_000551.3:c.341-1654_341-1653insTA , LRG_322t1:c.341-1654_341-1653insTA	NP_000542.1:n.341-1654_341-1653insTA
NM_198156.2:c.340+2673_340+2674insTA	NP_937799.1:n.340+2673_340+2674insTA
XM_011534078.1:c.*18-1654_*18-1653insTA	XP_011532380.1:n.*18-1654_*18-1653insTA
NM_001354723.1:c.*17+1839_*17+1840insTA	NP_001341652.1:n.*17+1839_*17+1840insTA
NM_000551.4:c.341-1654_341-1653insTA MANE Select	NP_000542.1:n.341-1654_341-1653insTA
NM_001354723.2:c.*17+1839_*17+1840insTA	NP_001341652.1:n.*17+1839_*17+1840insTA
NM_198156.3:c.340+2673_340+2674insTA	NP_937799.1:n.340+2673_340+2674insTA