Canonical Allele Identifier: CA971316620

Gene: NR2E3

Linked Data

• gnomAD v3: 15-71811421-GAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGC-G
• gnomAD v4: 15-71811421-GAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811426_71811530del , CM000677.2:g.71811426_71811530del	GRCh38
NC_000015.9:g.72103766_72103870del , CM000677.1:g.72103766_72103870del	GRCh37
NC_000015.8:g.69890820_69890924del	NCBI36
NG_009113.2:g.5872_5976del

Transcript Alleles

HGVS	Amino-acid change
ENST00000617575.5:c.119-57_166del
ENST00000617575.4:c.119-57_166del
ENST00000621098.1:c.119-57_166del
ENST00000621736.4:c.-146-57_-99del
NM_014249.3:c.119-57_166del
NM_016346.3:c.119-57_166del
XM_011521146.1:c.-146-57_-99del
NM_014249.4:c.119-57_166del
NM_016346.4:c.119-57_166del