Canonical Allele Identifier: CA618748938

Gene: NR2E3

Linked Data

• dbSNP Id: rs1432756621
• gnomAD v2: 15-72103630-GGGGGTGGGGGCT-G
• MyVariant Identifiers: chr15:g.72103631_72103642del (hg19) ; chr15:g.71811291_71811302del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811297_71811308del , CM000677.2:g.71811297_71811308del	GRCh38
NC_000015.9:g.72103637_72103648del , CM000677.1:g.72103637_72103648del	GRCh37
NC_000015.8:g.69890691_69890702del	NCBI36
NG_009113.2:g.5743_5754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.119-186_119-175del MANE Select	ENSP00000482504.1:n.119-186_119-175del
ENST00000617575.4:c.119-186_119-175del	ENSP00000482504.1:n.119-186_119-175del
ENST00000621098.1:c.119-186_119-175del	ENSP00000479962.1:n.119-186_119-175del
ENST00000621736.4:c.-146-186_-146-175del	ENSP00000479254.1:n.-146-186_-146-175del
NM_014249.3:c.119-186_119-175del	NP_055064.1:n.119-186_119-175del
NM_016346.3:c.119-186_119-175del	NP_057430.1:n.119-186_119-175del
XM_011521146.1:c.-146-186_-146-175del	XP_011519448.1:n.-146-186_-146-175del
NM_014249.4:c.119-186_119-175del MANE Select	NP_055064.1:n.119-186_119-175del
NM_016346.4:c.119-186_119-175del	NP_057430.1:n.119-186_119-175del