Canonical Allele Identifier: CA715428320

Gene: NR2E3

Linked Data

• dbSNP Id: rs1390037946
• MyVariant Identifiers: chr15:g.72103693_72103697del (hg19) ; chr15:g.71811353_71811357del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811354_71811358del , CM000677.2:g.71811354_71811358del	GRCh38
NC_000015.9:g.72103694_72103698del , CM000677.1:g.72103694_72103698del	GRCh37
NC_000015.8:g.69890748_69890752del	NCBI36
NG_009113.2:g.5800_5804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.119-129_119-125del MANE Select	ENSP00000482504.1:n.119-129_119-125del
ENST00000617575.4:c.119-129_119-125del	ENSP00000482504.1:n.119-129_119-125del
ENST00000621098.1:c.119-129_119-125del	ENSP00000479962.1:n.119-129_119-125del
ENST00000621736.4:c.-146-129_-146-125del	ENSP00000479254.1:n.-146-129_-146-125del
NM_014249.3:c.119-129_119-125del	NP_055064.1:n.119-129_119-125del
NM_016346.3:c.119-129_119-125del	NP_057430.1:n.119-129_119-125del
XM_011521146.1:c.-146-129_-146-125del	XP_011519448.1:n.-146-129_-146-125del
NM_014249.4:c.119-129_119-125del MANE Select	NP_055064.1:n.119-129_119-125del
NM_016346.4:c.119-129_119-125del	NP_057430.1:n.119-129_119-125del