Canonical Allele Identifier: CA2499220140
Gene: CYP17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1072800
ClinVar RCV Id: RCV001385611
dbSNP Id: rs2134083893
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102834875del , CM000672.2:g.102834875del GRCh38
NC_000010.10:g.104594632del , CM000672.1:g.104594632del GRCh37
NC_000010.9:g.104584622del NCBI36
NG_007955.1:g.7661del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369887.4:c.578del MANE Select ENSP00000358903.3:p.Pro193LeufsTer3
ENST00000638190.1:c.578del ENSP00000492539.1:p.Pro193LeufsTer3
ENST00000638272.1:c.298-1665del ENSP00000491508.1:n.298-1665del
ENST00000638971.1:c.578del ENSP00000492313.1:p.Pro193LeufsTer3
ENST00000639393.1:c.578del ENSP00000492651.1:p.Pro193LeufsTer3
ENST00000640633.1:n.340del
ENST00000369887.3:c.578del ENSP00000358903.3:p.Pro193LeufsTer3
ENST00000489268.1:n.832del
NM_000102.3:c.578del NP_000093.1:p.Pro193LeufsTer3
NM_000102.4:c.578del MANE Select NP_000093.1:p.Pro193LeufsTer3
Search 100 bp 5'
Search 100 bp 3'