Canonical Allele Identifier: CA2575777614

Gene: NR2E3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811751_71811752dup , CM000677.2:g.71811751_71811752dup	GRCh38
NC_000015.9:g.72104091_72104092dup , CM000677.1:g.72104091_72104092dup	GRCh37
NC_000015.8:g.69891145_69891146dup	NCBI36
NG_009113.2:g.6197_6198dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.246-15_246-14dup MANE Select	ENSP00000482504.1:n.246-15_246-14dup
ENST00000617575.4:c.246-15_246-14dup	ENSP00000482504.1:n.246-15_246-14dup
ENST00000621098.1:c.246-15_246-14dup	ENSP00000479962.1:n.246-15_246-14dup
ENST00000621736.4:c.-19-15_-19-14dup	ENSP00000479254.1:n.-19-15_-19-14dup
NM_014249.3:c.246-15_246-14dup	NP_055064.1:n.246-15_246-14dup
NM_016346.3:c.246-15_246-14dup	NP_057430.1:n.246-15_246-14dup
XM_011521146.1:c.-19-15_-19-14dup	XP_011519448.1:n.-19-15_-19-14dup
NM_014249.4:c.246-15_246-14dup MANE Select	NP_055064.1:n.246-15_246-14dup
NM_016346.4:c.246-15_246-14dup	NP_057430.1:n.246-15_246-14dup