Canonical Allele Identifier: CA2186513626
Gene: NR2E3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811599_71811602delinsCTCA , CM000677.2:g.71811599_71811602delinsCTCA GRCh38
NC_000015.9:g.72103939_72103942delinsCTCA , CM000677.1:g.72103939_72103942delinsCTCA GRCh37
NC_000015.8:g.69890993_69890996delinsCTCA NCBI36
NG_009113.2:g.6045_6048delinsCTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.235_238delinsCTCA MANE Select ENSP00000482504.1:p.Leu79=
ENST00000617575.4:c.235_238delinsCTCA ENSP00000482504.1:p.Leu79=
ENST00000621098.1:c.235_238delinsCTCA ENSP00000479962.1:p.Leu79=
ENST00000621736.4:c.-30_-27delinsCTCA ENSP00000479254.1:n.-30_-27delinsCTCA
NM_014249.3:c.235_238delinsCTCA NP_055064.1:p.Leu79=
NM_016346.3:c.235_238delinsCTCA NP_057430.1:p.Leu79=
XM_011521146.1:c.-30_-27delinsCTCA XP_011519448.1:n.-30_-27delinsCTCA
NM_014249.4:c.235_238delinsCTCA MANE Select NP_055064.1:p.Leu79=
NM_016346.4:c.235_238delinsCTCA NP_057430.1:p.Leu79=
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