Canonical Allele Identifier: CA2629291483

Gene: NR2E3

Linked Data

• gnomAD v4: 15-71811440-G-GGCCCAGCCCTGCCCCGGCCCAGCCCTGCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811454_71811455insCGGCCCAGCCCTGCCCCCGCCCAGCCCTGCCC , CM000677.2:g.71811454_71811455insCGGCCCAGCCCTGCCCCCGCCCAGCCCTGCCC	GRCh38
NC_000015.9:g.72103794_72103795insCGGCCCAGCCCTGCCCCCGCCCAGCCCTGCCC , CM000677.1:g.72103794_72103795insCGGCCCAGCCCTGCCCCCGCCCAGCCCTGCCC	GRCh37
NC_000015.8:g.69890848_69890849insCGGCCCAGCCCTGCCCCCGCCCAGCCCTGCCC	NCBI36
NG_009113.2:g.5900_5901insCGGCCCAGCCCTGCCCCCGCCCAGCCCTGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.119-29_119-28insCGGCCCAGCCCTGCCCCCGCCCAGCCCTGCCC MANE Select	ENSP00000482504.1:n.119-29_119-28insCGGCCCAGCCCTGCCCCCGCCCAGC...
ENST00000617575.4:c.119-29_119-28insCGGCCCAGCCCTGCCCCCGCCCAGCCCTGCCC	ENSP00000482504.1:n.119-29_119-28insCGGCCCAGCCCTGCCCCCGCCCAGC...
ENST00000621098.1:c.119-29_119-28insCGGCCCAGCCCTGCCCCCGCCCAGCCCTGCCC	ENSP00000479962.1:n.119-29_119-28insCGGCCCAGCCCTGCCCCCGCCCAGC...
ENST00000621736.4:c.-146-29_-146-28insCGGCCCAGCCCTGCCCCCGCCCAGCCCTGCCC	ENSP00000479254.1:n.-146-29_-146-28insCGGCCCAGCCCTGCCCCCGCCCA...
NM_014249.3:c.119-29_119-28insCGGCCCAGCCCTGCCCCCGCCCAGCCCTGCCC	NP_055064.1:n.119-29_119-28insCGGCCCAGCCCTGCCCCCGCCCAGCCCTGCC...
NM_016346.3:c.119-29_119-28insCGGCCCAGCCCTGCCCCCGCCCAGCCCTGCCC	NP_057430.1:n.119-29_119-28insCGGCCCAGCCCTGCCCCCGCCCAGCCCTGCC...
XM_011521146.1:c.-146-29_-146-28insCGGCCCAGCCCTGCCCCCGCCCAGCCCTGCCC	XP_011519448.1:n.-146-29_-146-28insCGGCCCAGCCCTGCCCCCGCCCAGCC...
NM_014249.4:c.119-29_119-28insCGGCCCAGCCCTGCCCCCGCCCAGCCCTGCCC MANE Select	NP_055064.1:n.119-29_119-28insCGGCCCAGCCCTGCCCCCGCCCAGCCCTGCC...
NM_016346.4:c.119-29_119-28insCGGCCCAGCCCTGCCCCCGCCCAGCCCTGCCC	NP_057430.1:n.119-29_119-28insCGGCCCAGCCCTGCCCCCGCCCAGCCCTGCC...