Canonical Allele Identifier: CA684499129

Gene: ORAI1

Linked Data

• dbSNP Id: rs1179831797
• gnomAD v3: 12-121627187-C-CG
• gnomAD v4: 12-121627187-C-CG
• MyVariant Identifiers: chr12:g.121627187_121627188insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627193dup , CM000674.2:g.121627193dup	GRCh38
NC_000012.11:g.122065099dup , CM000674.1:g.122065099dup	GRCh37
NC_000012.10:g.120549482dup	NCBI36
NG_007500.1:g.5619dup , LRG_93:g.5619dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+260dup
ENST00000617316.2:c.303+143dup	ENSP00000482568.2:n.303+143dup
ENST00000646827.1:n.501+143dup
ENST00000611718.1:c.238+19dup	ENSP00000477953.1:n.238+19dup
ENST00000616379.1:c.303+143dup	ENSP00000480616.1:n.303+143dup
ENST00000617316.1:c.114+143dup	ENSP00000482568.1:n.114+143dup
NM_032790.3:c.303+143dup , LRG_93t1:c.303+143dup	NP_116179.2:n.303+143dup