Canonical Allele Identifier: CA3003424125
Community Standard Title: NM_000102.4(CYP17A1):c.366dup (p.Leu123AlafsTer?)
Gene: CYP17A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102835324dup , CM000672.2:g.102835324dup GRCh38
NC_000010.10:g.104595081dup , CM000672.1:g.104595081dup GRCh37
NC_000010.9:g.104585071dup NCBI36
NG_007955.1:g.7210dup

Transcript Alleles

HGVS Amino-acid Change
NM_000102.4:c.366dup MANE Select NP_000093.1:p.Leu123AlafsTer?
ENST00000369887.4:c.366dup MANE Select ENSP00000358903.3:p.Leu123AlafsTer?
NM_000102.3:c.366dup NP_000093.1:p.Leu123AlafsTer?
ENST00000369887.3:c.366dup ENSP00000358903.3:p.Leu123AlafsTer?
ENST00000489268.1:n.620dup
ENST00000638190.1:c.366dup ENSP00000492539.1:p.Leu123AlafsTer?
ENST00000638272.1:c.297+1741dup ENSP00000491508.1:n.297+1741dup
ENST00000638971.1:c.366dup ENSP00000492313.1:p.Leu123AlafsTer?
ENST00000639393.1:c.366dup ENSP00000492651.1:p.Leu123AlafsTer?
ENST00000640633.1:n.128dup