Canonical Allele Identifier: CA618960703

Gene: NR2E3

Linked Data

• dbSNP Id: rs1232823413
• gnomAD v2: 15-72103790-T-TGCCCCGGCCCA
• gnomAD v3: 15-71811450-T-TGCCCCGGCCCA
• gnomAD v4: 15-71811450-T-TGCCCCGGCCCA
• MyVariant Identifiers: chr15:g.72103790_72103791insGCCCCGGCCCA (hg19) ; chr15:g.71811450_71811451insGCCCCGGCCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811454_71811455insCGGCCCAGCCC , CM000677.2:g.71811454_71811455insCGGCCCAGCCC	GRCh38
NC_000015.9:g.72103794_72103795insCGGCCCAGCCC , CM000677.1:g.72103794_72103795insCGGCCCAGCCC	GRCh37
NC_000015.8:g.69890848_69890849insCGGCCCAGCCC	NCBI36
NG_009113.2:g.5900_5901insCGGCCCAGCCC

Transcript Alleles

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