Canonical Allele Identifier: CA1878472428

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124502842_124502843delinsAG , CM000671.2:g.124502842_124502843delinsAG	GRCh38
NC_000009.11:g.127265121_127265122delinsAG , CM000671.1:g.127265121_127265122delinsAG	GRCh37
NC_000009.10:g.126304942_126304943delinsAG	NCBI36
NG_008176.1:g.9578_9579delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.244+236_244+237delinsCT MANE Select	ENSP00000362690.4:n.244+236_244+237delinsCT
ENST00000373588.8:c.244+236_244+237delinsCT	ENSP00000362690.4:n.244+236_244+237delinsCT
ENST00000455734.1:c.244+236_244+237delinsCT	ENSP00000393245.1:n.244+236_244+237delinsCT
ENST00000620110.4:c.244+236_244+237delinsCT	ENSP00000483309.1:n.244+236_244+237delinsCT
NM_004959.4:c.244+236_244+237delinsCT	NP_004950.2:n.244+236_244+237delinsCT
XM_005251871.2:c.244+236_244+237delinsCT	XP_005251928.1:n.244+236_244+237delinsCT
XM_005251872.3:c.-18+451_-18+452delinsCT	XP_005251929.1:n.-18+451_-18+452delinsCT
XM_011518455.1:c.244+236_244+237delinsCT	XP_011516757.1:n.244+236_244+237delinsCT
XM_011518456.1:c.244+236_244+237delinsCT	XP_011516758.1:n.244+236_244+237delinsCT
NM_004959.5:c.244+236_244+237delinsCT MANE Select	NP_004950.2:n.244+236_244+237delinsCT