Canonical Allele Identifier: CA5669424

Gene: CYP17A1 WBP1L CYP17A1-AS1

Linked Data

• ClinVar Variation Id: 2681112
• ClinVar RCV Id: RCV003468647
• dbSNP Id: rs774737304
• ExAC: 10:104592425 GCTT / G
• gnomAD v2: 10-104592425-GCTT-G
• gnomAD v4: 10-102832668-GCTT-G
• COSMIC: COSM5966518
• MyVariant Identifiers: chr10:g.104592426_104592428del (hg19) ; chr10:g.102832669_102832671del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102832676_102832678del , CM000672.2:g.102832676_102832678del	GRCh38
NC_000010.10:g.104592433_104592435del , CM000672.1:g.104592433_104592435del	GRCh37
NC_000010.9:g.104582423_104582425del	NCBI36
NG_007955.1:g.9863_9865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369887.4:c.979_981del (CYP17A1) MANE Select	ENSP00000358903.3:p.Lys327del
ENST00000638190.1:c.676_678del (CYP17A1)	ENSP00000492539.1:p.Lys226del
ENST00000638272.1:c.523_525del (CYP17A1)	ENSP00000491508.1:p.Lys175del
ENST00000638971.1:c.892_894del (CYP17A1)	ENSP00000492313.1:p.Lys298del
ENST00000639393.1:c.979_981del (CYP17A1)	ENSP00000492651.1:p.Lys327del
ENST00000640633.1:n.741_743del (CYP17A1)
ENST00000647664.1:c.*1707_*1709del (WBP1L)	ENSP00000498131.1:n.*1707_*1709del
ENST00000369887.3:c.979_981del (CYP17A1)	ENSP00000358903.3:p.Lys327del
NM_000102.3:c.979_981del (CYP17A1)	NP_000093.1:p.Lys327del
XR_428804.1:n.10_12del (CYP17A1-AS1)
NM_000102.4:c.979_981del (CYP17A1) MANE Select	NP_000093.1:p.Lys327del