Canonical Allele Identifier: CA2629291552

Gene: NR2E3

Linked Data

• gnomAD v4: 15-71811563-T-TGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811566_71811634dup , CM000677.2:g.71811566_71811634dup	GRCh38
NC_000015.9:g.72103906_72103974dup , CM000677.1:g.72103906_72103974dup	GRCh37
NC_000015.8:g.69890960_69891028dup	NCBI36
NG_009113.2:g.6012_6080dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.202_245+25dup
ENST00000617575.4:c.202_245+25dup
ENST00000621098.1:c.202_245+25dup
ENST00000621736.4:c.-63_-20+25dup
NM_014249.3:c.202_245+25dup
NM_016346.3:c.202_245+25dup
XM_011521146.1:c.-63_-20+25dup
NM_014249.4:c.202_245+25dup
NM_016346.4:c.202_245+25dup