Canonical Allele Identifier: CA2573143852

Gene: NR5A1

Linked Data

• ClinVar Variation Id: 1489814
• ClinVar RCV Id: RCV001983449
• dbSNP Id: rs2131279929

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124493124_124493126del , CM000671.2:g.124493124_124493126del	GRCh38
NC_000009.11:g.127255403_127255405del , CM000671.1:g.127255403_127255405del	GRCh37
NC_000009.10:g.126295224_126295226del	NCBI36
NG_008176.1:g.19296_19298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.895_897del MANE Select	ENSP00000362690.4:p.Gln299del
ENST00000373587.3:c.247_249del	ENSP00000362689.3:p.Gln83del
ENST00000373588.8:c.895_897del	ENSP00000362690.4:p.Gln299del
ENST00000620110.4:c.871-1897_871-1895del	ENSP00000483309.1:n.871-1897_871-1895del
NM_004959.4:c.895_897del	NP_004950.2:p.Gln299del
XM_005251871.2:c.895_897del	XP_005251928.1:p.Gln299del
XM_005251872.3:c.634_636del	XP_005251929.1:p.Gln212del
XM_011518455.1:c.895_897del	XP_011516757.1:p.Gln299del
XM_011518456.1:c.870+6965_870+6967del	XP_011516758.1:n.870+6965_870+6967del
NM_004959.5:c.895_897del MANE Select	NP_004950.2:p.Gln299del