Canonical Allele Identifier: CA2186513752

Gene: NR2E3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811825_71811827delinsCCT , CM000677.2:g.71811825_71811827delinsCCT	GRCh38
NC_000015.9:g.72104165_72104167delinsCCT , CM000677.1:g.72104165_72104167delinsCCT	GRCh37
NC_000015.8:g.69891219_69891221delinsCCT	NCBI36
NG_009113.2:g.6271_6273delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.305_307delinsCCT MANE Select	ENSP00000482504.1:p.Ala102=
ENST00000617575.4:c.305_307delinsCCT	ENSP00000482504.1:p.Ala102=
ENST00000621098.1:c.305_307delinsCCT	ENSP00000479962.1:p.Ala102=
ENST00000621736.4:c.41_43delinsCCT	ENSP00000479254.1:p.Ala14=
NM_014249.3:c.305_307delinsCCT	NP_055064.1:p.Ala102=
NM_016346.3:c.305_307delinsCCT	NP_057430.1:p.Ala102=
XM_011521146.1:c.41_43delinsCCT	XP_011519448.1:p.Ala14=
NM_014249.4:c.305_307delinsCCT MANE Select	NP_055064.1:p.Ala102=
NM_016346.4:c.305_307delinsCCT	NP_057430.1:p.Ala102=