Canonical Allele Identifier: CA971286674

Gene: NR2E3

Linked Data

• dbSNP Id: rs2054183299
• gnomAD v3: 15-71811750-TC-T
• gnomAD v4: 15-71811750-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811752del , CM000677.2:g.71811752del	GRCh38
NC_000015.9:g.72104092del , CM000677.1:g.72104092del	GRCh37
NC_000015.8:g.69891146del	NCBI36
NG_009113.2:g.6198del

Transcript Alleles

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