Canonical Allele Identifier: CA2580081224

Gene: CYP17A1 WBP1L

Linked Data

• ClinVar Variation Id: 1784
• ClinVar RCV Id: RCV000001857
• dbSNP Id: rs2134081192

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102830917del , CM000672.2:g.102830917del	GRCh38
NC_000010.10:g.104590674del , CM000672.1:g.104590674del	GRCh37
NC_000010.9:g.104580664del	NCBI36
NG_007955.1:g.11618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369887.4:c.1313del (CYP17A1) MANE Select	ENSP00000358903.3:p.Gly438AspfsTer6
ENST00000638190.1:c.1010del (CYP17A1)	ENSP00000492539.1:p.Gly337AspfsTer6
ENST00000638272.1:c.857del (CYP17A1)	ENSP00000491508.1:p.Gly286AspfsTer6
ENST00000638971.1:c.1226del (CYP17A1)	ENSP00000492313.1:p.Gly409AspfsTer6
ENST00000639393.1:c.1316del (CYP17A1)	ENSP00000492651.1:p.Gly439AspfsTer6
ENST00000640633.1:n.1075del (CYP17A1)
ENST00000647664.1:c.*599del (WBP1L)	ENSP00000498131.1:n.*599del
ENST00000369887.3:c.1313del (CYP17A1)	ENSP00000358903.3:p.Gly438AspfsTer6
NM_000102.3:c.1313del (CYP17A1)	NP_000093.1:p.Gly438AspfsTer6
NM_000102.4:c.1313del (CYP17A1) MANE Select	NP_000093.1:p.Gly438AspfsTer6