Canonical Allele Identifier: CA2797746911

Gene: ORAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627079dup , CM000674.2:g.121627079dup	GRCh38
NC_000012.11:g.122064985dup , CM000674.1:g.122064985dup	GRCh37
NC_000012.10:g.120549368dup	NCBI36
NG_007500.1:g.5505dup , LRG_93:g.5505dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+146dup
ENST00000617316.2:c.303+29dup	ENSP00000482568.2:n.303+29dup
ENST00000646827.1:n.501+29dup
ENST00000611718.1:c.143dup	ENSP00000477953.1:p.Leu49SerfsTer?
ENST00000616379.1:c.303+29dup	ENSP00000480616.1:n.303+29dup
ENST00000617316.1:c.114+29dup	ENSP00000482568.1:n.114+29dup
NM_032790.3:c.303+29dup , LRG_93t1:c.303+29dup	NP_116179.2:n.303+29dup