Canonical Allele Identifier: CA2629291602

Gene: NR2E3

Linked Data

• gnomAD v4: 15-71811674-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811675_71811676del , CM000677.2:g.71811675_71811676del	GRCh38
NC_000015.9:g.72104015_72104016del , CM000677.1:g.72104015_72104016del	GRCh37
NC_000015.8:g.69891069_69891070del	NCBI36
NG_009113.2:g.6121_6122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.245+66_245+67del MANE Select	ENSP00000482504.1:n.245+66_245+67del
ENST00000617575.4:c.245+66_245+67del	ENSP00000482504.1:n.245+66_245+67del
ENST00000621098.1:c.245+66_245+67del	ENSP00000479962.1:n.245+66_245+67del
ENST00000621736.4:c.-20+66_-20+67del	ENSP00000479254.1:n.-20+66_-20+67del
NM_014249.3:c.245+66_245+67del	NP_055064.1:n.245+66_245+67del
NM_016346.3:c.245+66_245+67del	NP_057430.1:n.245+66_245+67del
XM_011521146.1:c.-20+66_-20+67del	XP_011519448.1:n.-20+66_-20+67del
NM_014249.4:c.245+66_245+67del MANE Select	NP_055064.1:n.245+66_245+67del
NM_016346.4:c.245+66_245+67del	NP_057430.1:n.245+66_245+67del