Canonical Allele Identifier: CA618960664

Gene: NR2E3

Linked Data

• dbSNP Id: rs1422748815
• gnomAD v2: 15-72104100-CT-C
• gnomAD v4: 15-71811760-CT-C
• MyVariant Identifiers: chr15:g.72104101del (hg19) ; chr15:g.71811761del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811761del , CM000677.2:g.71811761del	GRCh38
NC_000015.9:g.72104101del , CM000677.1:g.72104101del	GRCh37
NC_000015.8:g.69891155del	NCBI36
NG_009113.2:g.6207del

Transcript Alleles

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