Canonical Allele Identifier: CA1878470249
Gene: NR5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124500970_124500973delinsTCTC , CM000671.2:g.124500970_124500973delinsTCTC GRCh38
NC_000009.11:g.127263249_127263252delinsTCTC , CM000671.1:g.127263249_127263252delinsTCTC GRCh37
NC_000009.10:g.126303070_126303073delinsTCTC NCBI36
NG_008176.1:g.11448_11451delinsGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.245-258_245-255delinsGAGA MANE Select ENSP00000362690.4:n.245-258_245-255delinsGAGA
ENST00000373587.3:c.14_17delinsGAGA ENSP00000362689.3:p.Gly5=
ENST00000373588.8:c.245-258_245-255delinsGAGA ENSP00000362690.4:n.245-258_245-255delinsGAGA
ENST00000455734.1:c.245-258_245-255delinsGAGA ENSP00000393245.1:n.245-258_245-255delinsGAGA
ENST00000620110.4:c.245-258_245-255delinsGAGA ENSP00000483309.1:n.245-258_245-255delinsGAGA
NM_004959.4:c.245-258_245-255delinsGAGA NP_004950.2:n.245-258_245-255delinsGAGA
XM_005251871.2:c.245-258_245-255delinsGAGA XP_005251928.1:n.245-258_245-255delinsGAGA
XM_005251872.3:c.-17-258_-17-255delinsGAGA XP_005251929.1:n.-17-258_-17-255delinsGAGA
XM_011518455.1:c.245-258_245-255delinsGAGA XP_011516757.1:n.245-258_245-255delinsGAGA
XM_011518456.1:c.245-258_245-255delinsGAGA XP_011516758.1:n.245-258_245-255delinsGAGA
NM_004959.5:c.245-258_245-255delinsGAGA MANE Select NP_004950.2:n.245-258_245-255delinsGAGA