Canonical Allele Identifier: CA2695201040
Gene: CYP17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2681114
ClinVar RCV Id: RCV003468649
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102834880dup , CM000672.2:g.102834880dup GRCh38
NC_000010.10:g.104594637dup , CM000672.1:g.104594637dup GRCh37
NC_000010.9:g.104584627dup NCBI36
NG_007955.1:g.7657dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000369887.4:c.574dup MANE Select ENSP00000358903.3:p.Asp192GlyfsTer3
ENST00000638190.1:c.574dup ENSP00000492539.1:p.Asp192GlyfsTer3
ENST00000638272.1:c.298-1669dup ENSP00000491508.1:n.298-1669dup
ENST00000638971.1:c.574dup ENSP00000492313.1:p.Asp192GlyfsTer3
ENST00000639393.1:c.574dup ENSP00000492651.1:p.Asp192GlyfsTer3
ENST00000640633.1:n.336dup
ENST00000369887.3:c.574dup ENSP00000358903.3:p.Asp192GlyfsTer3
ENST00000489268.1:n.828dup
NM_000102.3:c.574dup NP_000093.1:p.Asp192GlyfsTer3
NM_000102.4:c.574dup MANE Select NP_000093.1:p.Asp192GlyfsTer3
Search 100 bp 5'
Search 100 bp 3'