Canonical Allele Identifier: CA122724
Gene: NR5A1 HGNC NCBI

Linked Data

dbSNP Id: rs606231208

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124500270_124500278del , CM000671.2:g.124500270_124500278del GRCh38
NC_000009.11:g.127262549_127262557del , CM000671.1:g.127262549_127262557del GRCh37
NC_000009.10:g.126302370_126302378del NCBI36
NG_008176.1:g.12152_12160del

Transcript Alleles

HGVS Amino-acid change
ENST00000373588.9:c.691_699del MANE Select ENSP00000362690.4:p.Leu231_Leu233del
ENST00000373587.3:c.43_51del
ENST00000373588.8:c.691_699del ENSP00000362690.4:p.Leu231_Leu233del
ENST00000620110.4:c.691_699del ENSP00000483309.1:p.Leu231_Leu233del
NM_004959.4:c.691_699del NP_004950.2:p.Leu231_Leu233del
XM_005251871.2:c.691_699del XP_005251928.1:p.Leu231_Leu233del
XM_005251872.3:c.430_438del XP_005251929.1:p.Leu144_Leu146del
XM_011518455.1:c.691_699del XP_011516757.1:p.Leu231_Leu233del
XM_011518456.1:c.691_699del XP_011516758.1:p.Leu231_Leu233del
NM_004959.5:c.691_699del MANE Select NP_004950.2:p.Leu231_Leu233del