Canonical Allele Identifier: CA2580081203
Community Standard Title: NM_000102.4(CYP17A1):c.438_439del (p.Ile146MetfsTer9)
Gene: CYP17A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102835013_102835014del , CM000672.2:g.102835013_102835014del GRCh38
NC_000010.10:g.104594770_104594771del , CM000672.1:g.104594770_104594771del GRCh37
NC_000010.9:g.104584760_104584761del NCBI36
NG_007955.1:g.7521_7522del

Transcript Alleles

HGVS Amino-acid Change
NM_000102.4:c.438_439del MANE Select NP_000093.1:p.Ile146MetfsTer9
ENST00000369887.4:c.438_439del MANE Select ENSP00000358903.3:p.Ile146MetfsTer9
NM_000102.3:c.438_439del NP_000093.1:p.Ile146MetfsTer9
ENST00000369887.3:c.438_439del ENSP00000358903.3:p.Ile146MetfsTer9
ENST00000489268.1:n.692_693del
ENST00000638190.1:c.438_439del ENSP00000492539.1:p.Ile146MetfsTer9
ENST00000638272.1:c.298-1805_298-1804del ENSP00000491508.1:n.298-1805_298-1804del
ENST00000638971.1:c.438_439del ENSP00000492313.1:p.Ile146MetfsTer9
ENST00000639393.1:c.438_439del ENSP00000492651.1:p.Ile146MetfsTer9
ENST00000640633.1:n.200_201del