Canonical Allele Identifier: CA2575777602

Gene: NR2E3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811643_71811644del , CM000677.2:g.71811643_71811644del	GRCh38
NC_000015.9:g.72103983_72103984del , CM000677.1:g.72103983_72103984del	GRCh37
NC_000015.8:g.69891037_69891038del	NCBI36
NG_009113.2:g.6089_6090del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.245+34_245+35del MANE Select	ENSP00000482504.1:n.245+34_245+35del
ENST00000617575.4:c.245+34_245+35del	ENSP00000482504.1:n.245+34_245+35del
ENST00000621098.1:c.245+34_245+35del	ENSP00000479962.1:n.245+34_245+35del
ENST00000621736.4:c.-20+34_-20+35del	ENSP00000479254.1:n.-20+34_-20+35del
NM_014249.3:c.245+34_245+35del	NP_055064.1:n.245+34_245+35del
NM_016346.3:c.245+34_245+35del	NP_057430.1:n.245+34_245+35del
XM_011521146.1:c.-20+34_-20+35del	XP_011519448.1:n.-20+34_-20+35del
NM_014249.4:c.245+34_245+35del MANE Select	NP_055064.1:n.245+34_245+35del
NM_016346.4:c.245+34_245+35del	NP_057430.1:n.245+34_245+35del