Canonical Allele Identifier: CA2739291256

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500658del , CM000671.2:g.124500658del	GRCh38
NC_000009.11:g.127262937del , CM000671.1:g.127262937del	GRCh37
NC_000009.10:g.126302758del	NCBI36
NG_008176.1:g.11765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.304del MANE Select	ENSP00000362690.4:p.Asp102ThrfsTer4
ENST00000373587.3:c.39+292del	ENSP00000362689.3:n.39+292del
ENST00000373588.8:c.304del	ENSP00000362690.4:p.Asp102ThrfsTer4
ENST00000455734.1:c.304del	ENSP00000393245.1:p.Asp102ThrfsTer4
ENST00000620110.4:c.304del	ENSP00000483309.1:p.Asp102ThrfsTer4
NM_004959.4:c.304del	NP_004950.2:p.Asp102ThrfsTer4
XM_005251871.2:c.304del	XP_005251928.1:p.Asp102ThrfsTer4
XM_005251872.3:c.43del	XP_005251929.1:p.Asp15ThrfsTer4
XM_011518455.1:c.304del	XP_011516757.1:p.Asp102ThrfsTer4
XM_011518456.1:c.304del	XP_011516758.1:p.Asp102ThrfsTer4
NM_004959.5:c.304del MANE Select	NP_004950.2:p.Asp102ThrfsTer4