Canonical Allele Identifier: CA1878470220

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500958_124500962delinsCTGTT , CM000671.2:g.124500958_124500962delinsCTGTT	GRCh38
NC_000009.11:g.127263237_127263241delinsCTGTT , CM000671.1:g.127263237_127263241delinsCTGTT	GRCh37
NC_000009.10:g.126303058_126303062delinsCTGTT	NCBI36
NG_008176.1:g.11459_11463delinsAACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.245-247_245-243delinsAACAG MANE Select	ENSP00000362690.4:n.245-247_245-243delinsAACAG
ENST00000373587.3:c.25_29delinsAACAG	ENSP00000362689.3:p.Asn9=
ENST00000373588.8:c.245-247_245-243delinsAACAG	ENSP00000362690.4:n.245-247_245-243delinsAACAG
ENST00000455734.1:c.245-247_245-243delinsAACAG	ENSP00000393245.1:n.245-247_245-243delinsAACAG
ENST00000620110.4:c.245-247_245-243delinsAACAG	ENSP00000483309.1:n.245-247_245-243delinsAACAG
NM_004959.4:c.245-247_245-243delinsAACAG	NP_004950.2:n.245-247_245-243delinsAACAG
XM_005251871.2:c.245-247_245-243delinsAACAG	XP_005251928.1:n.245-247_245-243delinsAACAG
XM_005251872.3:c.-17-247_-17-243delinsAACAG	XP_005251929.1:n.-17-247_-17-243delinsAACAG
XM_011518455.1:c.245-247_245-243delinsAACAG	XP_011516757.1:n.245-247_245-243delinsAACAG
XM_011518456.1:c.245-247_245-243delinsAACAG	XP_011516758.1:n.245-247_245-243delinsAACAG
NM_004959.5:c.245-247_245-243delinsAACAG MANE Select	NP_004950.2:n.245-247_245-243delinsAACAG