Canonical Allele Identifier: CA5669411

Gene: CYP17A1 WBP1L

Linked Data

• dbSNP Id: rs776375072
• ExAC: 10:104592359 GACGGTT / G
• gnomAD v2: 10-104592359-GACGGTT-G
• gnomAD v4: 10-102832602-GACGGTT-G
• MyVariant Identifiers: chr10:g.104592360_104592365del (hg19) ; chr10:g.102832603_102832608del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102832608_102832613del , CM000672.2:g.102832608_102832613del	GRCh38
NC_000010.10:g.104592365_104592370del , CM000672.1:g.104592365_104592370del	GRCh37
NC_000010.9:g.104582355_104582360del	NCBI36
NG_007955.1:g.9926_9931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369887.4:c.1042_1047del (CYP17A1) MANE Select	ENSP00000358903.3:p.Asn348_Arg349del
ENST00000638190.1:c.739_744del (CYP17A1)	ENSP00000492539.1:p.Asn247_Arg248del
ENST00000638272.1:c.586_591del (CYP17A1)	ENSP00000491508.1:p.Asn196_Arg197del
ENST00000638971.1:c.955_960del (CYP17A1)	ENSP00000492313.1:p.Asn319_Arg320del
ENST00000639393.1:c.1042_1047del (CYP17A1)	ENSP00000492651.1:p.Asn348_Arg349del
ENST00000640633.1:n.804_809del (CYP17A1)
ENST00000647664.1:c.*1639_*1644del (WBP1L)	ENSP00000498131.1:n.*1639_*1644del
ENST00000369887.3:c.1042_1047del (CYP17A1)	ENSP00000358903.3:p.Asn348_Arg349del
NM_000102.3:c.1042_1047del (CYP17A1)	NP_000093.1:p.Asn348_Arg349del
NM_000102.4:c.1042_1047del (CYP17A1) MANE Select	NP_000093.1:p.Asn348_Arg349del