Canonical Allele Identifier: CA1878469071

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500491_124500500delinsGTGGACCGGC , CM000671.2:g.124500491_124500500delinsGTGGACCGGC	GRCh38
NC_000009.11:g.127262770_127262779delinsGTGGACCGGC , CM000671.1:g.127262770_127262779delinsGTGGACCGGC	GRCh37
NC_000009.10:g.126302591_126302600delinsGTGGACCGGC	NCBI36
NG_008176.1:g.11921_11930delinsGCCGGTCCAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000373588.9:c.460_469delinsGCCGGTCCAC MANE Select	ENSP00000362690.4:p.Ala154=
ENST00000373587.3:c.40-228_40-219delinsGCCGGTCCAC	ENSP00000362689.3:n.40-228_40-219delinsGCCGGTCCAC
ENST00000373588.8:c.460_469delinsGCCGGTCCAC	ENSP00000362690.4:p.Ala154=
ENST00000455734.1:c.460_469delinsGCCGGTCCAC	ENSP00000393245.1:p.Ala154=
ENST00000620110.4:c.460_469delinsGCCGGTCCAC	ENSP00000483309.1:p.Ala154=
NM_004959.4:c.460_469delinsGCCGGTCCAC	NP_004950.2:p.Ala154=
XM_005251871.2:c.460_469delinsGCCGGTCCAC	XP_005251928.1:p.Ala154=
XM_005251872.3:c.199_208delinsGCCGGTCCAC	XP_005251929.1:p.Ala67=
XM_011518455.1:c.460_469delinsGCCGGTCCAC	XP_011516757.1:p.Ala154=
XM_011518456.1:c.460_469delinsGCCGGTCCAC	XP_011516758.1:p.Ala154=
NM_004959.5:c.460_469delinsGCCGGTCCAC MANE Select	NP_004950.2:p.Ala154=