Canonical Allele Identifier: CA1878473454

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503377_124503378delinsCG , CM000671.2:g.124503377_124503378delinsCG	GRCh38
NC_000009.11:g.127265656_127265657delinsCG , CM000671.1:g.127265656_127265657delinsCG	GRCh37
NC_000009.10:g.126305477_126305478delinsCG	NCBI36
NG_008176.1:g.9043_9044delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.18_19delinsCG MANE Select	ENSP00000362690.4:p.Asp6=
ENST00000373588.8:c.18_19delinsCG	ENSP00000362690.4:p.Asp6=
ENST00000455734.1:c.18_19delinsCG	ENSP00000393245.1:p.Asp6=
ENST00000620110.4:c.18_19delinsCG	ENSP00000483309.1:p.Asp6=
NM_004959.4:c.18_19delinsCG	NP_004950.2:p.Asp6=
XM_005251871.2:c.18_19delinsCG	XP_005251928.1:p.Asp6=
XM_005251872.3:c.-102_-101delinsCG	XP_005251929.1:n.-102_-101delinsCG
XM_011518455.1:c.18_19delinsCG	XP_011516757.1:p.Asp6=
XM_011518456.1:c.18_19delinsCG	XP_011516758.1:p.Asp6=
NM_004959.5:c.18_19delinsCG MANE Select	NP_004950.2:p.Asp6=