Canonical Allele Identifier: CA2629291704
Gene: NR2E3 HGNC NCBI

Linked Data

gnomAD v4: 15-71811774-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811779del , CM000677.2:g.71811779del GRCh38
NC_000015.9:g.72104119del , CM000677.1:g.72104119del GRCh37
NC_000015.8:g.69891173del NCBI36
NG_009113.2:g.6225del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.259del MANE Select ENSP00000482504.1:p.Ala87GlnfsTer19
ENST00000617575.4:c.259del ENSP00000482504.1:p.Ala87GlnfsTer19
ENST00000621098.1:c.259del ENSP00000479962.1:p.Ala87GlnfsTer19
ENST00000621736.4:c.-6del ENSP00000479254.1:n.-6del
NM_014249.3:c.259del NP_055064.1:p.Ala87GlnfsTer19
NM_016346.3:c.259del NP_057430.1:p.Ala87GlnfsTer19
XM_011521146.1:c.-6del XP_011519448.1:n.-6del
NM_014249.4:c.259del MANE Select NP_055064.1:p.Ala87GlnfsTer19
NM_016346.4:c.259del NP_057430.1:p.Ala87GlnfsTer19
Search 100 bp 5'
Search 100 bp 3'