Canonical Allele Identifier: CA645548671
Gene: NR5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124503324_124503340del , CM000671.2:g.124503324_124503340del GRCh38
NC_000009.11:g.127265603_127265619del , CM000671.1:g.127265603_127265619del GRCh37
NC_000009.10:g.126305424_126305440del NCBI36
NG_008176.1:g.9081_9097del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.56_72del MANE Select ENSP00000362690.4:p.Lys19IlefsTer7
ENST00000373588.8:c.56_72del ENSP00000362690.4:p.Lys19IlefsTer7
ENST00000455734.1:c.56_72del ENSP00000393245.1:p.Lys19IlefsTer7
ENST00000620110.4:c.56_72del ENSP00000483309.1:p.Lys19IlefsTer7
NM_004959.4:c.56_72del NP_004950.2:p.Lys19IlefsTer7
XM_005251871.2:c.56_72del XP_005251928.1:p.Lys19IlefsTer7
XM_005251872.3:c.-64_-48del XP_005251929.1:n.-64_-48del
XM_011518455.1:c.56_72del XP_011516757.1:p.Lys19IlefsTer7
XM_011518456.1:c.56_72del XP_011516758.1:p.Lys19IlefsTer7
NM_004959.5:c.56_72del MANE Select NP_004950.2:p.Lys19IlefsTer7