Canonical Allele Identifier: CA2804685731

Gene: NR2E3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811657_71811658insCAC , CM000677.2:g.71811657_71811658insCAC	GRCh38
NC_000015.9:g.72103997_72103998insCAC , CM000677.1:g.72103997_72103998insCAC	GRCh37
NC_000015.8:g.69891051_69891052insCAC	NCBI36
NG_009113.2:g.6103_6104insCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.245+48_245+49insCAC MANE Select	ENSP00000482504.1:n.245+48_245+49insCAC
ENST00000617575.4:c.245+48_245+49insCAC	ENSP00000482504.1:n.245+48_245+49insCAC
ENST00000621098.1:c.245+48_245+49insCAC	ENSP00000479962.1:n.245+48_245+49insCAC
ENST00000621736.4:c.-20+48_-20+49insCAC	ENSP00000479254.1:n.-20+48_-20+49insCAC
NM_014249.3:c.245+48_245+49insCAC	NP_055064.1:n.245+48_245+49insCAC
NM_016346.3:c.245+48_245+49insCAC	NP_057430.1:n.245+48_245+49insCAC
XM_011521146.1:c.-20+48_-20+49insCAC	XP_011519448.1:n.-20+48_-20+49insCAC
NM_014249.4:c.245+48_245+49insCAC MANE Select	NP_055064.1:n.245+48_245+49insCAC
NM_016346.4:c.245+48_245+49insCAC	NP_057430.1:n.245+48_245+49insCAC