Canonical Allele Identifier: CA2629291531

Gene: NR2E3

Linked Data

• gnomAD v4: 15-71811469-C-CCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811470_71811471insAGC , CM000677.2:g.71811470_71811471insAGC	GRCh38
NC_000015.9:g.72103810_72103811insAGC , CM000677.1:g.72103810_72103811insAGC	GRCh37
NC_000015.8:g.69890864_69890865insAGC	NCBI36
NG_009113.2:g.5916_5917insAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.119-13_119-12insAGC MANE Select	ENSP00000482504.1:n.119-13_119-12insAGC
ENST00000617575.4:c.119-13_119-12insAGC	ENSP00000482504.1:n.119-13_119-12insAGC
ENST00000621098.1:c.119-13_119-12insAGC	ENSP00000479962.1:n.119-13_119-12insAGC
ENST00000621736.4:c.-146-13_-146-12insAGC	ENSP00000479254.1:n.-146-13_-146-12insAGC
NM_014249.3:c.119-13_119-12insAGC	NP_055064.1:n.119-13_119-12insAGC
NM_016346.3:c.119-13_119-12insAGC	NP_057430.1:n.119-13_119-12insAGC
XM_011521146.1:c.-146-13_-146-12insAGC	XP_011519448.1:n.-146-13_-146-12insAGC
NM_014249.4:c.119-13_119-12insAGC MANE Select	NP_055064.1:n.119-13_119-12insAGC
NM_016346.4:c.119-13_119-12insAGC	NP_057430.1:n.119-13_119-12insAGC