Canonical Allele Identifier: CA1878469350

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500561_124500562delinsAG , CM000671.2:g.124500561_124500562delinsAG	GRCh38
NC_000009.11:g.127262840_127262841delinsAG , CM000671.1:g.127262840_127262841delinsAG	GRCh37
NC_000009.10:g.126302661_126302662delinsAG	NCBI36
NG_008176.1:g.11859_11860delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.398_399delinsCT MANE Select	ENSP00000362690.4:p.Pro133=
ENST00000373587.3:c.40-290_40-289delinsCT	ENSP00000362689.3:n.40-290_40-289delinsCT
ENST00000373588.8:c.398_399delinsCT	ENSP00000362690.4:p.Pro133=
ENST00000455734.1:c.398_399delinsCT	ENSP00000393245.1:p.Pro133=
ENST00000620110.4:c.398_399delinsCT	ENSP00000483309.1:p.Pro133=
NM_004959.4:c.398_399delinsCT	NP_004950.2:p.Pro133=
XM_005251871.2:c.398_399delinsCT	XP_005251928.1:p.Pro133=
XM_005251872.3:c.137_138delinsCT	XP_005251929.1:p.Pro46=
XM_011518455.1:c.398_399delinsCT	XP_011516757.1:p.Pro133=
XM_011518456.1:c.398_399delinsCT	XP_011516758.1:p.Pro133=
NM_004959.5:c.398_399delinsCT MANE Select	NP_004950.2:p.Pro133=