Canonical Allele Identifier: CA1345065538
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142027_10142028delinsGC , CM000665.2:g.10142027_10142028delinsGC GRCh38
NC_000003.11:g.10183711_10183712delinsGC , CM000665.1:g.10183711_10183712delinsGC GRCh37
NC_000003.10:g.10158711_10158712delinsGC NCBI36
NG_008212.3:g.5393_5394delinsGC , LRG_322:g.5393_5394delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.180_181delinsGC ENSP00000512434.1:p.Arg60=
ENST00000696143.1:c.180_181delinsGC ENSP00000512435.1:p.Arg60=
ENST00000696153.1:c.180_181delinsGC ENSP00000512444.1:p.Arg60=
ENST00000256474.3:c.180_181delinsGC MANE Select ENSP00000256474.3:p.Arg60=
ENST00000256474.2:c.180_181delinsGC ENSP00000256474.2:p.Arg60=
ENST00000345392.2:c.180_181delinsGC ENSP00000344757.2:p.Arg60=
NM_000551.3:c.180_181delinsGC , LRG_322t1:c.180_181delinsGC NP_000542.1:p.Arg60=
NM_198156.2:c.180_181delinsGC NP_937799.1:p.Arg60=
XM_011534078.1:c.180_181delinsGC XP_011532380.1:p.Arg60=
NM_001354723.1:c.180_181delinsGC NP_001341652.1:p.Arg60=
NM_000551.4:c.180_181delinsGC MANE Select NP_000542.1:p.Arg60=
NM_001354723.2:c.180_181delinsGC NP_001341652.1:p.Arg60=
NM_198156.3:c.180_181delinsGC NP_937799.1:p.Arg60=