Canonical Allele Identifier: CA541213522
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 456571
dbSNP Id: rs863224839

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141970_10141984dup , CM000665.2:g.10141970_10141984dup GRCh38
NC_000003.11:g.10183654_10183668dup , CM000665.1:g.10183654_10183668dup GRCh37
NC_000003.10:g.10158654_10158668dup NCBI36
NG_008212.3:g.5336_5350dup , LRG_322:g.5336_5350dup

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.123_137dup ENSP00000512434.1:p.Glu46_Glu47insGluSerG...
ENST00000696143.1:c.123_137dup ENSP00000512435.1:p.Glu46_Glu47insGluSerG...
ENST00000696153.1:c.123_137dup ENSP00000512444.1:p.Glu46_Glu47insGluSerG...
ENST00000256474.3:c.123_137dup MANE Select ENSP00000256474.3:p.Glu46_Glu47insGluSerG...
ENST00000256474.2:c.123_137dup ENSP00000256474.2:p.Glu46_Glu47insGluSerG...
ENST00000345392.2:c.123_137dup ENSP00000344757.2:p.Glu46_Glu47insGluSerG...
NM_000551.3:c.123_137dup , LRG_322t1:c.123_137dup NP_000542.1:p.Glu46_Glu47insGluSerGlyProG...
NM_198156.2:c.123_137dup NP_937799.1:p.Glu46_Glu47insGluSerGlyProG...
XM_011534078.1:c.123_137dup XP_011532380.1:p.Glu46_Glu47insGluSerGlyP...
NM_001354723.1:c.123_137dup NP_001341652.1:p.Glu46_Glu47insGluSerGlyP...
NM_000551.4:c.123_137dup MANE Select NP_000542.1:p.Glu46_Glu47insGluSerGlyProG...
NM_001354723.2:c.123_137dup NP_001341652.1:p.Glu46_Glu47insGluSerGlyP...
NM_198156.3:c.123_137dup NP_937799.1:p.Glu46_Glu47insGluSerGlyProG...