Canonical Allele Identifier: CA2573106190
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142134_10142154del , CM000665.2:g.10142134_10142154del GRCh38
NC_000003.11:g.10183818_10183838del , CM000665.1:g.10183818_10183838del GRCh37
NC_000003.10:g.10158818_10158838del NCBI36
NG_008212.3:g.5500_5520del , LRG_322:g.5500_5520del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.287_307del ENSP00000512434.1:p.Gln96_Pro102del
ENST00000696143.1:c.287_307del ENSP00000512435.1:p.Gln96_Pro102del
ENST00000696153.1:c.287_307del ENSP00000512444.1:p.Gln96_Pro102del
ENST00000256474.3:c.287_307del MANE Select ENSP00000256474.3:p.Gln96_Pro102del
ENST00000256474.2:c.287_307del ENSP00000256474.2:p.Gln96_Pro102del
ENST00000345392.2:c.287_307del ENSP00000344757.2:p.Gln96_Pro102del
NM_000551.3:c.287_307del , LRG_322t1:c.287_307del NP_000542.1:p.Gln96_Pro102del
NM_198156.2:c.287_307del NP_937799.1:p.Gln96_Pro102del
XM_011534078.1:c.287_307del XP_011532380.1:p.Gln96_Pro102del
NM_001354723.1:c.287_307del NP_001341652.1:p.Gln96_Pro102del
NM_000551.4:c.287_307del MANE Select NP_000542.1:p.Gln96_Pro102del
NM_001354723.2:c.287_307del NP_001341652.1:p.Gln96_Pro102del
NM_198156.3:c.287_307del NP_937799.1:p.Gln96_Pro102del