Canonical Allele Identifier: CA1345068569

Gene: VHL

Linked Data

• dbSNP Id: rs1696200791

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144315_10144316insTA , CM000665.2:g.10144315_10144316insTA	GRCh38
NC_000003.11:g.10185999_10186000insTA , CM000665.1:g.10185999_10186000insTA	GRCh37
NC_000003.10:g.10160999_10161000insTA	NCBI36
NG_008212.3:g.7681_7682insTA , LRG_322:g.7681_7682insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1294_*17+1295insTA	ENSP00000512434.1:n.*17+1294_*17+1295insTA
ENST00000696143.1:c.599+1294_599+1295insTA	ENSP00000512435.1:n.599+1294_599+1295insTA
ENST00000696153.1:c.340+2128_340+2129insTA	ENSP00000512444.1:n.340+2128_340+2129insTA
ENST00000256474.3:c.340+2128_340+2129insTA MANE Select	ENSP00000256474.3:n.340+2128_340+2129insTA
ENST00000256474.2:c.340+2128_340+2129insTA	ENSP00000256474.2:n.340+2128_340+2129insTA
ENST00000345392.2:c.340+2128_340+2129insTA	ENSP00000344757.2:n.340+2128_340+2129insTA
ENST00000477538.1:n.476+1294_476+1295insTA
NM_000551.3:c.340+2128_340+2129insTA , LRG_322t1:c.340+2128_340+2129insTA	NP_000542.1:n.340+2128_340+2129insTA
NM_198156.2:c.340+2128_340+2129insTA	NP_937799.1:n.340+2128_340+2129insTA
XM_011534078.1:c.*17+1294_*17+1295insTA	XP_011532380.1:n.*17+1294_*17+1295insTA
NM_001354723.1:c.*17+1294_*17+1295insTA	NP_001341652.1:n.*17+1294_*17+1295insTA
NM_000551.4:c.340+2128_340+2129insTA MANE Select	NP_000542.1:n.340+2128_340+2129insTA
NM_001354723.2:c.*17+1294_*17+1295insTA	NP_001341652.1:n.*17+1294_*17+1295insTA
NM_198156.3:c.340+2128_340+2129insTA	NP_937799.1:n.340+2128_340+2129insTA