Canonical Allele Identifier: CA2785906050

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124493118del , CM000671.2:g.124493118del	GRCh38
NC_000009.11:g.127255397del , CM000671.1:g.127255397del	GRCh37
NC_000009.10:g.126295218del	NCBI36
NG_008176.1:g.19303del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.902del MANE Select	ENSP00000362690.4:p.Cys301SerfsTer?
ENST00000373587.3:c.254del	ENSP00000362689.3:p.Cys85SerfsTer?
ENST00000373588.8:c.902del	ENSP00000362690.4:p.Cys301SerfsTer?
ENST00000620110.4:c.871-1890del	ENSP00000483309.1:n.871-1890del
NM_004959.4:c.902del	NP_004950.2:p.Cys301SerfsTer?
XM_005251871.2:c.902del	XP_005251928.1:p.Cys301SerfsTer?
XM_005251872.3:c.641del	XP_005251929.1:p.Cys214SerfsTer?
XM_011518455.1:c.902del	XP_011516757.1:p.Cys301SerfsTer?
XM_011518456.1:c.870+6972del	XP_011516758.1:n.870+6972del
NM_004959.5:c.902del MANE Select	NP_004950.2:p.Cys301SerfsTer?