Canonical Allele Identifier: CA658657899

Gene: NR5A1

Linked Data

• ClinVar Variation Id: 471062
• ClinVar RCV Id: RCV000532275
• dbSNP Id: rs1554721859
• MyVariant Identifiers: chr9:g.127265364_127265366del (hg19) ; chr9:g.124503085_124503087del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503086_124503088del , CM000671.2:g.124503086_124503088del	GRCh38
NC_000009.11:g.127265365_127265367del , CM000671.1:g.127265365_127265367del	GRCh37
NC_000009.10:g.126305186_126305188del	NCBI36
NG_008176.1:g.9334_9336del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.236_238del MANE Select	ENSP00000362690.4:p.Arg79del
ENST00000373588.8:c.236_238del	ENSP00000362690.4:p.Arg79del
ENST00000455734.1:c.236_238del	ENSP00000393245.1:p.Arg79del
ENST00000620110.4:c.236_238del	ENSP00000483309.1:p.Arg79del
NM_004959.4:c.236_238del	NP_004950.2:p.Arg79del
XM_005251871.2:c.236_238del	XP_005251928.1:p.Arg79del
XM_005251872.3:c.-18+207_-18+209del	XP_005251929.1:n.-18+207_-18+209del
XM_011518455.1:c.236_238del	XP_011516757.1:p.Arg79del
XM_011518456.1:c.236_238del	XP_011516758.1:p.Arg79del
NM_004959.5:c.236_238del MANE Select	NP_004950.2:p.Arg79del