Canonical Allele Identifier: CA2695211093

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500426_124500438delinsTAGCCAGCCAGTGGCCC , CM000671.2:g.124500426_124500438delinsTAGCCAGCCAGTGGCCC	GRCh38
NC_000009.11:g.127262705_127262717delinsTAGCCAGCCAGTGGCCC , CM000671.1:g.127262705_127262717delinsTAGCCAGCCAGTGGCCC	GRCh37
NC_000009.10:g.126302526_126302538delinsTAGCCAGCCAGTGGCCC	NCBI36
NG_008176.1:g.11983_11995delinsGGGCCACTGGCTGGCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.522_534delinsGGGCCACTGGCTGGCTA MANE Select	ENSP00000362690.4:p.Ala176HisfsTer22
ENST00000373587.3:c.40-166_40-154delinsGGGCCACTGGCTGGCTA	ENSP00000362689.3:n.40-166_40-154delinsGGGCCACTGGCTGGCTA
ENST00000373588.8:c.522_534delinsGGGCCACTGGCTGGCTA	ENSP00000362690.4:p.Ala176HisfsTer22
ENST00000620110.4:c.522_534delinsGGGCCACTGGCTGGCTA	ENSP00000483309.1:p.Ala176HisfsTer22
NM_004959.4:c.522_534delinsGGGCCACTGGCTGGCTA	NP_004950.2:p.Ala176HisfsTer22
XM_005251871.2:c.522_534delinsGGGCCACTGGCTGGCTA	XP_005251928.1:p.Ala176HisfsTer22
XM_005251872.3:c.261_273delinsGGGCCACTGGCTGGCTA	XP_005251929.1:p.Ala89HisfsTer22
XM_011518455.1:c.522_534delinsGGGCCACTGGCTGGCTA	XP_011516757.1:p.Ala176HisfsTer22
XM_011518456.1:c.522_534delinsGGGCCACTGGCTGGCTA	XP_011516758.1:p.Ala176HisfsTer22
NM_004959.5:c.522_534delinsGGGCCACTGGCTGGCTA MANE Select	NP_004950.2:p.Ala176HisfsTer22