Canonical Allele Identifier: CA2785906237

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500598_124500599dup , CM000671.2:g.124500598_124500599dup	GRCh38
NC_000009.11:g.127262877_127262878dup , CM000671.1:g.127262877_127262878dup	GRCh37
NC_000009.10:g.126302698_126302699dup	NCBI36
NG_008176.1:g.11824_11825dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.363_364dup MANE Select	ENSP00000362690.4:p.Thr122ArgfsTer?
ENST00000373587.3:c.40-325_40-324dup	ENSP00000362689.3:n.40-325_40-324dup
ENST00000373588.8:c.363_364dup	ENSP00000362690.4:p.Thr122ArgfsTer?
ENST00000455734.1:c.363_364dup	ENSP00000393245.1:p.Thr122ArgfsTer?
ENST00000620110.4:c.363_364dup	ENSP00000483309.1:p.Thr122ArgfsTer?
NM_004959.4:c.363_364dup	NP_004950.2:p.Thr122ArgfsTer?
XM_005251871.2:c.363_364dup	XP_005251928.1:p.Thr122ArgfsTer?
XM_005251872.3:c.102_103dup	XP_005251929.1:p.Thr35ArgfsTer?
XM_011518455.1:c.363_364dup	XP_011516757.1:p.Thr122ArgfsTer?
XM_011518456.1:c.363_364dup	XP_011516758.1:p.Thr122ArgfsTer?
NM_004959.5:c.363_364dup MANE Select	NP_004950.2:p.Thr122ArgfsTer?