Canonical Allele Identifier: CA2695211112
Gene: NR5A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124503334_124503348del , CM000671.2:g.124503334_124503348del GRCh38
NC_000009.11:g.127265613_127265627del , CM000671.1:g.127265613_127265627del GRCh37
NC_000009.10:g.126305434_126305448del NCBI36
NG_008176.1:g.9076_9090del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.51_65del MANE Select ENSP00000362690.4:p.Asp18_Gly22del
ENST00000373588.8:c.51_65del ENSP00000362690.4:p.Asp18_Gly22del
ENST00000455734.1:c.51_65del ENSP00000393245.1:p.Asp18_Gly22del
ENST00000620110.4:c.51_65del ENSP00000483309.1:p.Asp18_Gly22del
NM_004959.4:c.51_65del NP_004950.2:p.Asp18_Gly22del
XM_005251871.2:c.51_65del XP_005251928.1:p.Asp18_Gly22del
XM_005251872.3:c.-69_-55del XP_005251929.1:n.-69_-55del
XM_011518455.1:c.51_65del XP_011516757.1:p.Asp18_Gly22del
XM_011518456.1:c.51_65del XP_011516758.1:p.Asp18_Gly22del
NM_004959.5:c.51_65del MANE Select NP_004950.2:p.Asp18_Gly22del
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