Canonical Allele Identifier: CA2697558735

Gene: CYP17A1

Linked Data

• ClinVar Variation Id: 2709618
• ClinVar RCV Id: RCV003550057

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102834958_102834961del , CM000672.2:g.102834958_102834961del	GRCh38
NC_000010.10:g.104594715_104594718del , CM000672.1:g.104594715_104594718del	GRCh37
NC_000010.9:g.104584705_104584708del	NCBI36
NG_007955.1:g.7574_7577del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369887.4:c.491_494del MANE Select	ENSP00000358903.3:p.Ser164Ter
ENST00000638190.1:c.491_494del	ENSP00000492539.1:p.Ser164Ter
ENST00000638272.1:c.298-1752_298-1749del	ENSP00000491508.1:n.298-1752_298-1749del
ENST00000638971.1:c.491_494del	ENSP00000492313.1:p.Ser164Ter
ENST00000639393.1:c.491_494del	ENSP00000492651.1:p.Ser164Ter
ENST00000640633.1:n.253_256del
ENST00000369887.3:c.491_494del	ENSP00000358903.3:p.Ser164Ter
ENST00000489268.1:n.745_748del
NM_000102.3:c.491_494del	NP_000093.1:p.Ser164Ter
NM_000102.4:c.491_494del MANE Select	NP_000093.1:p.Ser164Ter