Canonical Allele Identifier: CA2629291551
Gene: NR2E3 HGNC NCBI

Linked Data

gnomAD v4: 15-71811558-A-ACGGCTG
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811560_71811565dup , CM000677.2:g.71811560_71811565dup GRCh38
NC_000015.9:g.72103900_72103905dup , CM000677.1:g.72103900_72103905dup GRCh37
NC_000015.8:g.69890954_69890959dup NCBI36
NG_009113.2:g.6006_6011dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.196_201dup MANE Select ENSP00000482504.1:p.Cys67_Ser68insGlyCys
ENST00000617575.4:c.196_201dup ENSP00000482504.1:p.Cys67_Ser68insGlyCys
ENST00000621098.1:c.196_201dup ENSP00000479962.1:p.Cys67_Ser68insGlyCys
ENST00000621736.4:c.-69_-64dup ENSP00000479254.1:n.-69_-64dup
NM_014249.3:c.196_201dup NP_055064.1:p.Cys67_Ser68insGlyCys
NM_016346.3:c.196_201dup NP_057430.1:p.Cys67_Ser68insGlyCys
XM_011521146.1:c.-69_-64dup XP_011519448.1:n.-69_-64dup
NM_014249.4:c.196_201dup MANE Select NP_055064.1:p.Cys67_Ser68insGlyCys
NM_016346.4:c.196_201dup NP_057430.1:p.Cys67_Ser68insGlyCys
Search 100 bp 5'
Search 100 bp 3'