Canonical Allele Identifier: CA952632047

Gene: ORAI1

Linked Data

• gnomAD v3: 12-121627063-C-CGCCCT
• gnomAD v4: 12-121627063-C-CGCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627073_121627077dup , CM000674.2:g.121627073_121627077dup	GRCh38
NC_000012.11:g.122064979_122064983dup , CM000674.1:g.122064979_122064983dup	GRCh37
NC_000012.10:g.120549362_120549366dup	NCBI36
NG_007500.1:g.5499_5503dup , LRG_93:g.5499_5503dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+140_425+144dup
ENST00000617316.2:c.303+23_303+27dup	ENSP00000482568.2:n.303+23_303+27dup
ENST00000646827.1:n.501+23_501+27dup
ENST00000611718.1:c.137_141dup	ENSP00000477953.1:p.Pro48CysfsTer26
ENST00000616379.1:c.303+23_303+27dup	ENSP00000480616.1:n.303+23_303+27dup
ENST00000617316.1:c.114+23_114+27dup	ENSP00000482568.1:n.114+23_114+27dup
NM_032790.3:c.303+23_303+27dup , LRG_93t1:c.303+23_303+27dup	NP_116179.2:n.303+23_303+27dup