Canonical Allele Identifier: CA915941834
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 657192
dbSNP Id: rs1575921303

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141959_10142003dup , CM000665.2:g.10141959_10142003dup GRCh38
NC_000003.11:g.10183643_10183687dup , CM000665.1:g.10183643_10183687dup GRCh37
NC_000003.10:g.10158643_10158687dup NCBI36
NG_008212.3:g.5325_5369dup , LRG_322:g.5325_5369dup

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.112_156dup ENSP00000512434.1:p.Glu52_Glu53insSerGlyP...
ENST00000696143.1:c.112_156dup ENSP00000512435.1:p.Glu52_Glu53insSerGlyP...
ENST00000696153.1:c.112_156dup ENSP00000512444.1:p.Glu52_Glu53insSerGlyP...
ENST00000256474.3:c.112_156dup MANE Select ENSP00000256474.3:p.Glu52_Glu53insSerGlyP...
ENST00000256474.2:c.112_156dup ENSP00000256474.2:p.Glu52_Glu53insSerGlyP...
ENST00000345392.2:c.112_156dup ENSP00000344757.2:p.Glu52_Glu53insSerGlyP...
NM_000551.3:c.112_156dup , LRG_322t1:c.112_156dup NP_000542.1:p.Glu52_Glu53insSerGlyProGluG...
NM_198156.2:c.112_156dup NP_937799.1:p.Glu52_Glu53insSerGlyProGluG...
XM_011534078.1:c.112_156dup XP_011532380.1:p.Glu52_Glu53insSerGlyProG...
NM_001354723.1:c.112_156dup NP_001341652.1:p.Glu52_Glu53insSerGlyProG...
NM_000551.4:c.112_156dup MANE Select NP_000542.1:p.Glu52_Glu53insSerGlyProGluG...
NM_001354723.2:c.112_156dup NP_001341652.1:p.Glu52_Glu53insSerGlyProG...
NM_198156.3:c.112_156dup NP_937799.1:p.Glu52_Glu53insSerGlyProGluG...