Canonical Allele Identifier: CA2573145431

Gene: CYP17A1

Linked Data

• ClinVar Variation Id: 1453390
• ClinVar RCV Id: RCV001994799
• dbSNP Id: rs2134085666

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102837320_102837323del , CM000672.2:g.102837320_102837323del	GRCh38
NC_000010.10:g.104597077_104597080del , CM000672.1:g.104597077_104597080del	GRCh37
NC_000010.9:g.104587067_104587070del	NCBI36
NG_007955.1:g.5213_5216del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369887.4:c.41_44del MANE Select	ENSP00000358903.3:p.Tyr14CysfsTer?
ENST00000638190.1:c.41_44del	ENSP00000492539.1:p.Tyr14CysfsTer?
ENST00000638272.1:c.41_44del	ENSP00000491508.1:p.Tyr14CysfsTer?
ENST00000638971.1:c.41_44del	ENSP00000492313.1:p.Tyr14CysfsTer?
ENST00000639393.1:c.41_44del	ENSP00000492651.1:p.Tyr14CysfsTer?
ENST00000369887.3:c.41_44del	ENSP00000358903.3:p.Tyr14CysfsTer?
ENST00000489268.1:n.94_97del
NM_000102.3:c.41_44del	NP_000093.1:p.Tyr14CysfsTer?
NM_000102.4:c.41_44del MANE Select	NP_000093.1:p.Tyr14CysfsTer?