Canonical Allele Identifier: CA1345066652
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142252_10142253delinsGC , CM000665.2:g.10142252_10142253delinsGC GRCh38
NC_000003.11:g.10183936_10183937delinsGC , CM000665.1:g.10183936_10183937delinsGC GRCh37
NC_000003.10:g.10158936_10158937delinsGC NCBI36
NG_008212.3:g.5618_5619delinsGC , LRG_322:g.5618_5619delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.340+65_340+66delinsGC ENSP00000512434.1:n.340+65_340+66delinsGC
ENST00000696143.1:c.340+65_340+66delinsGC ENSP00000512435.1:n.340+65_340+66delinsGC
ENST00000696153.1:c.340+65_340+66delinsGC ENSP00000512444.1:n.340+65_340+66delinsGC
ENST00000256474.3:c.340+65_340+66delinsGC MANE Select ENSP00000256474.3:n.340+65_340+66delinsGC
ENST00000256474.2:c.340+65_340+66delinsGC ENSP00000256474.2:n.340+65_340+66delinsGC
ENST00000345392.2:c.340+65_340+66delinsGC ENSP00000344757.2:n.340+65_340+66delinsGC
NM_000551.3:c.340+65_340+66delinsGC , LRG_322t1:c.340+65_340+66delinsGC NP_000542.1:n.340+65_340+66delinsGC
NM_198156.2:c.340+65_340+66delinsGC NP_937799.1:n.340+65_340+66delinsGC
XM_011534078.1:c.340+65_340+66delinsGC XP_011532380.1:n.340+65_340+66delinsGC
NM_001354723.1:c.340+65_340+66delinsGC NP_001341652.1:n.340+65_340+66delinsGC
NM_000551.4:c.340+65_340+66delinsGC MANE Select NP_000542.1:n.340+65_340+66delinsGC
NM_001354723.2:c.340+65_340+66delinsGC NP_001341652.1:n.340+65_340+66delinsGC
NM_198156.3:c.340+65_340+66delinsGC NP_937799.1:n.340+65_340+66delinsGC