Canonical Allele Identifier: CA122719
Gene: NR5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12804
dbSNP Id: rs606231206

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124500294del , CM000671.2:g.124500294del GRCh38
NC_000009.11:g.127262573del , CM000671.1:g.127262573del GRCh37
NC_000009.10:g.126302394del NCBI36
NG_008176.1:g.12127del

Transcript Alleles

HGVS Amino-acid change
ENST00000373588.9:c.666del MANE Select ENSP00000362690.4:p.Asn222LysfsTer?
ENST00000373587.3:c.40-22del ENSP00000362689.3:n.40-22del
ENST00000373588.8:c.666del ENSP00000362690.4:p.Asn222LysfsTer?
ENST00000620110.4:c.666del ENSP00000483309.1:p.Asn222LysfsTer?
NM_004959.4:c.666del NP_004950.2:p.Asn222LysfsTer?
XM_005251871.2:c.666del XP_005251928.1:p.Asn222LysfsTer?
XM_005251872.3:c.405del XP_005251929.1:p.Asn135LysfsTer?
XM_011518455.1:c.666del XP_011516757.1:p.Asn222LysfsTer?
XM_011518456.1:c.666del XP_011516758.1:p.Asn222LysfsTer?
NM_004959.5:c.666del MANE Select NP_004950.2:p.Asn222LysfsTer?