Canonical Allele Identifier: CA432536171
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141889_10141890insA , CM000665.2:g.10141889_10141890insA GRCh38
NC_000003.11:g.10183573_10183574insA , CM000665.1:g.10183573_10183574insA GRCh37
NC_000003.10:g.10158573_10158574insA NCBI36
NG_008212.3:g.5255_5256insA , LRG_322:g.5255_5256insA

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.42_43insA ENSP00000512434.1:p.Ala15SerfsTer12
ENST00000696143.1:c.42_43insA ENSP00000512435.1:p.Ala15SerfsTer12
ENST00000696153.1:c.42_43insA ENSP00000512444.1:p.Ala15SerfsTer12
ENST00000256474.3:c.42_43insA MANE Select ENSP00000256474.3:p.Ala15SerfsTer12
ENST00000256474.2:c.42_43insA ENSP00000256474.2:p.Ala15SerfsTer12
ENST00000345392.2:c.42_43insA ENSP00000344757.2:p.Ala15SerfsTer12
NM_000551.3:c.42_43insA , LRG_322t1:c.42_43insA NP_000542.1:p.Ala15SerfsTer12
NM_198156.2:c.42_43insA NP_937799.1:p.Ala15SerfsTer12
XM_011534078.1:c.42_43insA XP_011532380.1:p.Ala15SerfsTer12
NM_001354723.1:c.42_43insA NP_001341652.1:p.Ala15SerfsTer12
NM_000551.4:c.42_43insA MANE Select NP_000542.1:p.Ala15SerfsTer12
NM_001354723.2:c.42_43insA NP_001341652.1:p.Ala15SerfsTer12
NM_198156.3:c.42_43insA NP_937799.1:p.Ala15SerfsTer12