Canonical Allele Identifier: CA2825001602

Gene: NR5A1

Linked Data

• ClinVar Variation Id: 2690959
• ClinVar RCV Id: RCV003991620

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500499del , CM000671.2:g.124500499del	GRCh38
NC_000009.11:g.127262778del , CM000671.1:g.127262778del	GRCh37
NC_000009.10:g.126302599del	NCBI36
NG_008176.1:g.11923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.462del MANE Select	ENSP00000362690.4:p.Gly155ValfsTer?
ENST00000373587.3:c.40-226del	ENSP00000362689.3:n.40-226del
ENST00000373588.8:c.462del	ENSP00000362690.4:p.Gly155ValfsTer?
ENST00000455734.1:c.462del	ENSP00000393245.1:p.Gly155ValfsTer?
ENST00000620110.4:c.462del	ENSP00000483309.1:p.Gly155ValfsTer?
NM_004959.4:c.462del	NP_004950.2:p.Gly155ValfsTer?
XM_005251871.2:c.462del	XP_005251928.1:p.Gly155ValfsTer?
XM_005251872.3:c.201del	XP_005251929.1:p.Gly68ValfsTer?
XM_011518455.1:c.462del	XP_011516757.1:p.Gly155ValfsTer?
XM_011518456.1:c.462del	XP_011516758.1:p.Gly155ValfsTer?
NM_004959.5:c.462del MANE Select	NP_004950.2:p.Gly155ValfsTer?