Canonical Allele Identifier: CA2579449074

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500537_124500538del , CM000671.2:g.124500537_124500538del	GRCh38
NC_000009.11:g.127262816_127262817del , CM000671.1:g.127262816_127262817del	GRCh37
NC_000009.10:g.126302637_126302638del	NCBI36
NG_008176.1:g.11884_11885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.423_424del MANE Select	ENSP00000362690.4:p.Pro142GlnfsTer6
ENST00000373587.3:c.40-265_40-264del	ENSP00000362689.3:n.40-265_40-264del
ENST00000373588.8:c.423_424del	ENSP00000362690.4:p.Pro142GlnfsTer6
ENST00000455734.1:c.423_424del	ENSP00000393245.1:p.Pro142GlnfsTer6
ENST00000620110.4:c.423_424del	ENSP00000483309.1:p.Pro142GlnfsTer6
NM_004959.4:c.423_424del	NP_004950.2:p.Pro142GlnfsTer6
XM_005251871.2:c.423_424del	XP_005251928.1:p.Pro142GlnfsTer6
XM_005251872.3:c.162_163del	XP_005251929.1:p.Pro55GlnfsTer6
XM_011518455.1:c.423_424del	XP_011516757.1:p.Pro142GlnfsTer6
XM_011518456.1:c.423_424del	XP_011516758.1:p.Pro142GlnfsTer6
NM_004959.5:c.423_424del MANE Select	NP_004950.2:p.Pro142GlnfsTer6