Canonical Allele Identifier: CA2574686146
Gene: CYP17A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102834912_102834914del , CM000672.2:g.102834912_102834914del GRCh38
NC_000010.10:g.104594669_104594671del , CM000672.1:g.104594669_104594671del GRCh37
NC_000010.9:g.104584659_104584661del NCBI36
NG_007955.1:g.7622_7624del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369887.4:c.539_541del MANE Select ENSP00000358903.3:p.Ser180del
ENST00000638190.1:c.539_541del ENSP00000492539.1:p.Ser180del
ENST00000638272.1:c.298-1704_298-1702del ENSP00000491508.1:n.298-1704_298-1702del
ENST00000638971.1:c.539_541del ENSP00000492313.1:p.Ser180del
ENST00000639393.1:c.539_541del ENSP00000492651.1:p.Ser180del
ENST00000640633.1:n.301_303del
ENST00000369887.3:c.539_541del ENSP00000358903.3:p.Ser180del
ENST00000489268.1:n.793_795del
NM_000102.3:c.539_541del NP_000093.1:p.Ser180del
NM_000102.4:c.539_541del MANE Select NP_000093.1:p.Ser180del