Canonical Allele Identifier: CA916083061

Gene: NR5A1

Linked Data

• ClinVar Variation Id: 851632
• ClinVar RCV Id: RCV001056064 ; RCV001269583
• dbSNP Id: rs1832494273

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503194_124503196del , CM000671.2:g.124503194_124503196del	GRCh38
NC_000009.11:g.127265473_127265475del , CM000671.1:g.127265473_127265475del	GRCh37
NC_000009.10:g.126305294_126305296del	NCBI36
NG_008176.1:g.9230_9232del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.132_134del MANE Select	ENSP00000362690.4:p.Asn44del
ENST00000373588.8:c.132_134del	ENSP00000362690.4:p.Asn44del
ENST00000455734.1:c.132_134del	ENSP00000393245.1:p.Asn44del
ENST00000620110.4:c.132_134del	ENSP00000483309.1:p.Asn44del
NM_004959.4:c.132_134del	NP_004950.2:p.Asn44del
XM_005251871.2:c.132_134del	XP_005251928.1:p.Asn44del
XM_005251872.3:c.-18+103_-18+105del	XP_005251929.1:n.-18+103_-18+105del
XM_011518455.1:c.132_134del	XP_011516757.1:p.Asn44del
XM_011518456.1:c.132_134del	XP_011516758.1:p.Asn44del
NM_004959.5:c.132_134del MANE Select	NP_004950.2:p.Asn44del