Canonical Allele Identifier: CA1044996205

Gene: VHL

Linked Data

• dbSNP Id: rs1696200245

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144304_10144305insAA , CM000665.2:g.10144304_10144305insAA	GRCh38
NC_000003.11:g.10185988_10185989insAA , CM000665.1:g.10185988_10185989insAA	GRCh37
NC_000003.10:g.10160988_10160989insAA	NCBI36
NG_008212.3:g.7670_7671insAA , LRG_322:g.7670_7671insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1283_*17+1284insAA	ENSP00000512434.1:n.*17+1283_*17+1284insAA
ENST00000696143.1:c.599+1283_599+1284insAA	ENSP00000512435.1:n.599+1283_599+1284insAA
ENST00000696153.1:c.340+2117_340+2118insAA	ENSP00000512444.1:n.340+2117_340+2118insAA
ENST00000256474.3:c.340+2117_340+2118insAA MANE Select	ENSP00000256474.3:n.340+2117_340+2118insAA
ENST00000256474.2:c.340+2117_340+2118insAA	ENSP00000256474.2:n.340+2117_340+2118insAA
ENST00000345392.2:c.340+2117_340+2118insAA	ENSP00000344757.2:n.340+2117_340+2118insAA
ENST00000477538.1:n.476+1283_476+1284insAA
NM_000551.3:c.340+2117_340+2118insAA , LRG_322t1:c.340+2117_340+2118insAA	NP_000542.1:n.340+2117_340+2118insAA
NM_198156.2:c.340+2117_340+2118insAA	NP_937799.1:n.340+2117_340+2118insAA
XM_011534078.1:c.*17+1283_*17+1284insAA	XP_011532380.1:n.*17+1283_*17+1284insAA
NM_001354723.1:c.*17+1283_*17+1284insAA	NP_001341652.1:n.*17+1283_*17+1284insAA
NM_000551.4:c.340+2117_340+2118insAA MANE Select	NP_000542.1:n.340+2117_340+2118insAA
NM_001354723.2:c.*17+1283_*17+1284insAA	NP_001341652.1:n.*17+1283_*17+1284insAA
NM_198156.3:c.340+2117_340+2118insAA	NP_937799.1:n.340+2117_340+2118insAA