Canonical Allele Identifier: CA952632083

Gene: ORAI1

Linked Data

• dbSNP Id: rs1303694267
• gnomAD v3: 12-121627125-T-TGGGCGGGCC
• gnomAD v4: 12-121627125-T-TGGGCGGGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627135_121627143dup , CM000674.2:g.121627135_121627143dup	GRCh38
NC_000012.11:g.122065041_122065049dup , CM000674.1:g.122065041_122065049dup	GRCh37
NC_000012.10:g.120549424_120549432dup	NCBI36
NG_007500.1:g.5561_5569dup , LRG_93:g.5561_5569dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+202_425+210dup
ENST00000617316.2:c.303+85_303+93dup	ENSP00000482568.2:n.303+85_303+93dup
ENST00000646827.1:n.501+85_501+93dup
ENST00000611718.1:c.199_207dup	ENSP00000477953.1:p.Ala69_Arg70insGlyArgAla
ENST00000616379.1:c.303+85_303+93dup	ENSP00000480616.1:n.303+85_303+93dup
ENST00000617316.1:c.114+85_114+93dup	ENSP00000482568.1:n.114+85_114+93dup
NM_032790.3:c.303+85_303+93dup , LRG_93t1:c.303+85_303+93dup	NP_116179.2:n.303+85_303+93dup