Canonical Allele Identifier: CA645548668

Gene: NR5A1

Linked Data

• COSMIC: COSM4566429

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500586_124500587delinsAA , CM000671.2:g.124500586_124500587delinsAA	GRCh38
NC_000009.11:g.127262865_127262866delinsAA , CM000671.1:g.127262865_127262866delinsAA	GRCh37
NC_000009.10:g.126302686_126302687delinsAA	NCBI36
NG_008176.1:g.11834_11835delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.373_374delinsTT MANE Select	ENSP00000362690.4:p.Pro125Leu
ENST00000373587.3:c.40-315_40-314delinsTT	ENSP00000362689.3:n.40-315_40-314delinsTT
ENST00000373588.8:c.373_374delinsTT	ENSP00000362690.4:p.Pro125Leu
ENST00000455734.1:c.373_374delinsTT	ENSP00000393245.1:p.Pro125Leu
ENST00000620110.4:c.373_374delinsTT	ENSP00000483309.1:p.Pro125Leu
NM_004959.4:c.373_374delinsTT	NP_004950.2:p.Pro125Leu
XM_005251871.2:c.373_374delinsTT	XP_005251928.1:p.Pro125Leu
XM_005251872.3:c.112_113delinsTT	XP_005251929.1:p.Pro38Leu
XM_011518455.1:c.373_374delinsTT	XP_011516757.1:p.Pro125Leu
XM_011518456.1:c.373_374delinsTT	XP_011516758.1:p.Pro125Leu
NM_004959.5:c.373_374delinsTT MANE Select	NP_004950.2:p.Pro125Leu