Canonical Allele Identifier: CA2691611115

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124500585-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500590del , CM000671.2:g.124500590del	GRCh38
NC_000009.11:g.127262869del , CM000671.1:g.127262869del	GRCh37
NC_000009.10:g.126302690del	NCBI36
NG_008176.1:g.11835del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.374del MANE Select	ENSP00000362690.4:p.Pro125ArgfsTer?
ENST00000373587.3:c.40-314del	ENSP00000362689.3:n.40-314del
ENST00000373588.8:c.374del	ENSP00000362690.4:p.Pro125ArgfsTer?
ENST00000455734.1:c.374del	ENSP00000393245.1:p.Pro125ArgfsTer?
ENST00000620110.4:c.374del	ENSP00000483309.1:p.Pro125ArgfsTer?
NM_004959.4:c.374del	NP_004950.2:p.Pro125ArgfsTer?
XM_005251871.2:c.374del	XP_005251928.1:p.Pro125ArgfsTer?
XM_005251872.3:c.113del	XP_005251929.1:p.Pro38ArgfsTer?
XM_011518455.1:c.374del	XP_011516757.1:p.Pro125ArgfsTer?
XM_011518456.1:c.374del	XP_011516758.1:p.Pro125ArgfsTer?
NM_004959.5:c.374del MANE Select	NP_004950.2:p.Pro125ArgfsTer?