Canonical Allele Identifier: CA1345058604
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146567_10146568delinsCA , CM000665.2:g.10146567_10146568delinsCA GRCh38
NC_000003.11:g.10188251_10188252delinsCA , CM000665.1:g.10188251_10188252delinsCA GRCh37
NC_000003.10:g.10163251_10163252delinsCA NCBI36
NG_008212.3:g.9933_9934delinsCA , LRG_322:g.9933_9934delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*71_*72delinsCA ENSP00000512434.1:n.*71_*72delinsCA
ENST00000696143.1:c.600-3220_600-3219delinsCA ENSP00000512435.1:n.600-3220_600-3219delinsCA
ENST00000696153.1:c.394_395delinsCA ENSP00000512444.1:p.Gln132=
ENST00000256474.3:c.394_395delinsCA MANE Select ENSP00000256474.3:p.Gln132=
ENST00000256474.2:c.394_395delinsCA ENSP00000256474.2:p.Gln132=
ENST00000345392.2:c.341-3220_341-3219delinsCA ENSP00000344757.2:n.341-3220_341-3219delinsCA
ENST00000477538.1:n.530_531delinsCA
NM_000551.3:c.394_395delinsCA , LRG_322t1:c.394_395delinsCA NP_000542.1:p.Gln132=
NM_198156.2:c.341-3220_341-3219delinsCA NP_937799.1:n.341-3220_341-3219delinsCA
XM_011534078.1:c.*71_*72delinsCA XP_011532380.1:n.*71_*72delinsCA
NM_001354723.1:c.*18-3220_*18-3219delinsCA NP_001341652.1:n.*18-3220_*18-3219delinsCA
NM_000551.4:c.394_395delinsCA MANE Select NP_000542.1:p.Gln132=
NM_001354723.2:c.*18-3220_*18-3219delinsCA NP_001341652.1:n.*18-3220_*18-3219delinsCA
NM_198156.3:c.341-3220_341-3219delinsCA NP_937799.1:n.341-3220_341-3219delinsCA