Canonical Allele Identifier: CA2695211075

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124493123_124493124insA , CM000671.2:g.124493123_124493124insA	GRCh38
NC_000009.11:g.127255402_127255403insA , CM000671.1:g.127255402_127255403insA	GRCh37
NC_000009.10:g.126295223_126295224insA	NCBI36
NG_008176.1:g.19297_19298insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.896_897insT MANE Select	ENSP00000362690.4:p.Gln299HisfsTer?
ENST00000373587.3:c.248_249insT	ENSP00000362689.3:p.Gln83HisfsTer?
ENST00000373588.8:c.896_897insT	ENSP00000362690.4:p.Gln299HisfsTer?
ENST00000620110.4:c.871-1896_871-1895insT	ENSP00000483309.1:n.871-1896_871-1895insT
NM_004959.4:c.896_897insT	NP_004950.2:p.Gln299HisfsTer?
XM_005251871.2:c.896_897insT	XP_005251928.1:p.Gln299HisfsTer?
XM_005251872.3:c.635_636insT	XP_005251929.1:p.Gln212HisfsTer?
XM_011518455.1:c.896_897insT	XP_011516757.1:p.Gln299HisfsTer?
XM_011518456.1:c.870+6966_870+6967insT	XP_011516758.1:n.870+6966_870+6967insT
NM_004959.5:c.896_897insT MANE Select	NP_004950.2:p.Gln299HisfsTer?