Canonical Allele Identifier: CA2186513664

Gene: NR2E3

Linked Data

• dbSNP Id: rs2054182083

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811664_71811665delinsGA , CM000677.2:g.71811664_71811665delinsGA	GRCh38
NC_000015.9:g.72104004_72104005delinsGA , CM000677.1:g.72104004_72104005delinsGA	GRCh37
NC_000015.8:g.69891058_69891059delinsGA	NCBI36
NG_009113.2:g.6110_6111delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.245+55_245+56delinsGA MANE Select	ENSP00000482504.1:n.245+55_245+56delinsGA
ENST00000617575.4:c.245+55_245+56delinsGA	ENSP00000482504.1:n.245+55_245+56delinsGA
ENST00000621098.1:c.245+55_245+56delinsGA	ENSP00000479962.1:n.245+55_245+56delinsGA
ENST00000621736.4:c.-20+55_-20+56delinsGA	ENSP00000479254.1:n.-20+55_-20+56delinsGA
NM_014249.3:c.245+55_245+56delinsGA	NP_055064.1:n.245+55_245+56delinsGA
NM_016346.3:c.245+55_245+56delinsGA	NP_057430.1:n.245+55_245+56delinsGA
XM_011521146.1:c.-20+55_-20+56delinsGA	XP_011519448.1:n.-20+55_-20+56delinsGA
NM_014249.4:c.245+55_245+56delinsGA MANE Select	NP_055064.1:n.245+55_245+56delinsGA
NM_016346.4:c.245+55_245+56delinsGA	NP_057430.1:n.245+55_245+56delinsGA