Canonical Allele Identifier: CA2629291603

Gene: NR2E3

Linked Data

• gnomAD v4: 15-71811675-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811679del , CM000677.2:g.71811679del	GRCh38
NC_000015.9:g.72104019del , CM000677.1:g.72104019del	GRCh37
NC_000015.8:g.69891073del	NCBI36
NG_009113.2:g.6125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.245+70del MANE Select	ENSP00000482504.1:n.245+70del
ENST00000617575.4:c.245+70del	ENSP00000482504.1:n.245+70del
ENST00000621098.1:c.245+70del	ENSP00000479962.1:n.245+70del
ENST00000621736.4:c.-20+70del	ENSP00000479254.1:n.-20+70del
NM_014249.3:c.245+70del	NP_055064.1:n.245+70del
NM_016346.3:c.245+70del	NP_057430.1:n.245+70del
XM_011521146.1:c.-20+70del	XP_011519448.1:n.-20+70del
NM_014249.4:c.245+70del MANE Select	NP_055064.1:n.245+70del
NM_016346.4:c.245+70del	NP_057430.1:n.245+70del