Canonical Allele Identifier: CA491103467
Gene: NR2E3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811508_71811509insCTCCAGTGCCTCGCTCCA , CM000677.2:g.71811508_71811509insCTCCAGTGCCTCGCTCCA GRCh38
NC_000015.9:g.72103848_72103849insCTCCAGTGCCTCGCTCCA , CM000677.1:g.72103848_72103849insCTCCAGTGCCTCGCTCCA GRCh37
NC_000015.8:g.69890902_69890903insCTCCAGTGCCTCGCTCCA NCBI36
NG_009113.2:g.5954_5955insCTCCAGTGCCTCGCTCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.144_145insCTCCAGTGCCTCGCTCCA MANE Select ENSP00000482504.1:p.Arg48_Val49insLeuGlnCysLeuAlaPro
ENST00000617575.4:c.144_145insCTCCAGTGCCTCGCTCCA ENSP00000482504.1:p.Arg48_Val49insLeuGlnCysLeuAlaPro
ENST00000621098.1:c.144_145insCTCCAGTGCCTCGCTCCA ENSP00000479962.1:p.Arg48_Val49insLeuGlnCysLeuAlaPro
ENST00000621736.4:c.-121_-120insCTCCAGTGCCTCGCTCCA ENSP00000479254.1:n.-121_-120insCTCCAGTGCCTCGCTCCA
NM_014249.3:c.144_145insCTCCAGTGCCTCGCTCCA NP_055064.1:p.Arg48_Val49insLeuGlnCysLeuAlaPro
NM_016346.3:c.144_145insCTCCAGTGCCTCGCTCCA NP_057430.1:p.Arg48_Val49insLeuGlnCysLeuAlaPro
XM_011521146.1:c.-121_-120insCTCCAGTGCCTCGCTCCA XP_011519448.1:n.-121_-120insCTCCAGTGCCTCGCTCCA
NM_014249.4:c.144_145insCTCCAGTGCCTCGCTCCA MANE Select NP_055064.1:p.Arg48_Val49insLeuGlnCysLeuAlaPro
NM_016346.4:c.144_145insCTCCAGTGCCTCGCTCCA NP_057430.1:p.Arg48_Val49insLeuGlnCysLeuAlaPro