Canonical Allele Identifier: CA2580081209
Gene: CYP17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2136932
ClinVar RCV Id: RCV003062300

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102835388del , CM000672.2:g.102835388del GRCh38
NC_000010.10:g.104595145del , CM000672.1:g.104595145del GRCh37
NC_000010.9:g.104585135del NCBI36
NG_007955.1:g.7146del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369887.4:c.302del MANE Select ENSP00000358903.3:p.Thr101IlefsTer2
ENST00000638190.1:c.302del ENSP00000492539.1:p.Thr101IlefsTer2
ENST00000638272.1:c.297+1677del ENSP00000491508.1:n.297+1677del
ENST00000638971.1:c.302del ENSP00000492313.1:p.Thr101IlefsTer2
ENST00000639393.1:c.302del ENSP00000492651.1:p.Thr101IlefsTer2
ENST00000640633.1:n.64del
ENST00000369887.3:c.302del ENSP00000358903.3:p.Thr101IlefsTer2
ENST00000489268.1:n.556del
NM_000102.3:c.302del NP_000093.1:p.Thr101IlefsTer2
NM_000102.4:c.302del MANE Select NP_000093.1:p.Thr101IlefsTer2