Canonical Allele Identifier: CA5669352

Gene: CYP17A1 WBP1L

Linked Data

• ClinVar Variation Id: 2201502
• ClinVar RCV Id: RCV002654998
• dbSNP Id: rs767329419
• ExAC: 10:104590756 G / GTGGC
• gnomAD v2: 10-104590756-G-GTGGC
• gnomAD v3: 10-102830999-G-GTGGC
• gnomAD v4: 10-102830999-G-GTGGC
• MyVariant Identifiers: chr10:g.104590756_104590757insTGGC (hg19) ; chr10:g.102830999_102831000insTGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102831000_102831003dup , CM000672.2:g.102831000_102831003dup	GRCh38
NC_000010.10:g.104590757_104590760dup , CM000672.1:g.104590757_104590760dup	GRCh37
NC_000010.9:g.104580747_104580750dup	NCBI36
NG_007955.1:g.11531_11534dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369887.4:c.1244-18_1244-15dup (CYP17A1) MANE Select	ENSP00000358903.3:n.1244-18_1244-15dup
ENST00000638190.1:c.941-18_941-15dup (CYP17A1)	ENSP00000492539.1:n.941-18_941-15dup
ENST00000638272.1:c.788-18_788-15dup (CYP17A1)	ENSP00000491508.1:n.788-18_788-15dup
ENST00000638971.1:c.1157-18_1157-15dup (CYP17A1)	ENSP00000492313.1:n.1157-18_1157-15dup
ENST00000639393.1:c.1247-18_1247-15dup (CYP17A1)	ENSP00000492651.1:n.1247-18_1247-15dup
ENST00000640633.1:n.1006-18_1006-15dup (CYP17A1)
ENST00000647664.1:c.*628+54_*628+57dup (WBP1L)	ENSP00000498131.1:n.*628+54_*628+57dup
ENST00000369887.3:c.1244-18_1244-15dup (CYP17A1)	ENSP00000358903.3:n.1244-18_1244-15dup
ENST00000469683.1:n.197-18_197-15dup (CYP17A1)
NM_000102.3:c.1244-18_1244-15dup (CYP17A1)	NP_000093.1:n.1244-18_1244-15dup
NM_000102.4:c.1244-18_1244-15dup (CYP17A1) MANE Select	NP_000093.1:n.1244-18_1244-15dup