Canonical Allele Identifier: CA2580071149

Gene: SRD5A3

Linked Data

• ClinVar Variation Id: 2446387
• ClinVar RCV Id: RCV003158008

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55346386_55346396del , CM000666.2:g.55346386_55346396del	GRCh38
NC_000004.11:g.56212553_56212563del , CM000666.1:g.56212553_56212563del	GRCh37
NC_000004.10:g.55907310_55907320del	NCBI36
NG_028230.1:g.5166_5176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.50_60del MANE Select	ENSP00000264228.4:p.Ala17AspfsTer?
ENST00000679351.1:c.50_60del	ENSP00000505676.1:p.Ala17AspfsTer?
ENST00000679707.1:c.50_60del	ENSP00000505713.1:p.Ala17AspfsTer?
ENST00000679836.1:c.50_60del	ENSP00000506601.1:p.Ala17AspfsTer?
ENST00000680700.1:c.50_60del	ENSP00000504926.1:p.Ala17AspfsTer?
ENST00000264228.8:c.50_60del	ENSP00000264228.4:p.Ala17AspfsTer?
NM_024592.4:c.50_60del	NP_078868.1:p.Ala17AspfsTer?
XM_005265766.2:c.50_60del	XP_005265823.1:p.Ala17AspfsTer?
XM_005265767.2:c.50_60del	XP_005265824.1:p.Ala17AspfsTer?
XM_005265766.4:c.50_60del	XP_005265823.1:p.Ala17AspfsTer?
XM_005265767.3:c.50_60del	XP_005265824.1:p.Ala17AspfsTer?
NM_024592.5:c.50_60del MANE Select	NP_078868.1:p.Ala17AspfsTer?