Canonical Allele Identifier: CA3003424121
Gene: CYP17A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102835313dup , CM000672.2:g.102835313dup GRCh38
NC_000010.10:g.104595070dup , CM000672.1:g.104595070dup GRCh37
NC_000010.9:g.104585060dup NCBI36
NG_007955.1:g.7222dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000369887.4:c.378dup MANE Select ENSP00000358903.3:p.Leu127AlafsTer29
ENST00000638190.1:c.378dup ENSP00000492539.1:p.Leu127AlafsTer29
ENST00000638272.1:c.297+1753dup ENSP00000491508.1:n.297+1753dup
ENST00000638971.1:c.378dup ENSP00000492313.1:p.Leu127AlafsTer29
ENST00000639393.1:c.378dup ENSP00000492651.1:p.Leu127AlafsTer29
ENST00000640633.1:n.140dup
ENST00000369887.3:c.378dup ENSP00000358903.3:p.Leu127AlafsTer29
ENST00000489268.1:n.632dup
NM_000102.3:c.378dup NP_000093.1:p.Leu127AlafsTer29
NM_000102.4:c.378dup MANE Select NP_000093.1:p.Leu127AlafsTer29