Canonical Allele Identifier: CA5669332

Gene: CYP17A1 WBP1L

Linked Data

• ClinVar Variation Id: 2681094
• ClinVar RCV Id: RCV003468629 ; RCV003738476
• dbSNP Id: rs749406474
• ExAC: 10:104590614 AG / A
• gnomAD v2: 10-104590614-AG-A
• gnomAD v4: 10-102830857-AG-A
• MyVariant Identifiers: chr10:g.104590615del (hg19) ; chr10:g.102830858del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102830859del , CM000672.2:g.102830859del	GRCh38
NC_000010.10:g.104590616del , CM000672.1:g.104590616del	GRCh37
NC_000010.9:g.104580606del	NCBI36
NG_007955.1:g.11676del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369887.4:c.1371del (CYP17A1) MANE Select	ENSP00000358903.3:p.Trp458GlyfsTer28
ENST00000638190.1:c.1068del (CYP17A1)	ENSP00000492539.1:p.Trp357GlyfsTer28
ENST00000638272.1:c.915del (CYP17A1)	ENSP00000491508.1:p.Trp306GlyfsTer28
ENST00000638971.1:c.1284del (CYP17A1)	ENSP00000492313.1:p.Trp429GlyfsTer28
ENST00000639393.1:c.1374del (CYP17A1)	ENSP00000492651.1:p.Trp459GlyfsTer28
ENST00000640633.1:n.1133del (CYP17A1)
ENST00000647664.1:c.*541del (WBP1L)	ENSP00000498131.1:n.*541del
ENST00000369887.3:c.1371del (CYP17A1)	ENSP00000358903.3:p.Trp458GlyfsTer28
NM_000102.3:c.1371del (CYP17A1)	NP_000093.1:p.Trp458GlyfsTer28
NM_000102.4:c.1371del (CYP17A1) MANE Select	NP_000093.1:p.Trp458GlyfsTer28