Canonical Allele Identifier: CA6837448

Gene: ORAI1

Linked Data

• ExAC: 12:122064998 GC / G
• gnomAD v2: 12-122064998-GC-G
• MyVariant Identifiers: chr12:g.122064999del (hg19) ; chr12:g.121627093del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627093del , CM000674.2:g.121627093del	GRCh38
NC_000012.11:g.122064999del , CM000674.1:g.122064999del	GRCh37
NC_000012.10:g.120549382del	NCBI36
NG_007500.1:g.5519del , LRG_93:g.5519del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+160del
ENST00000617316.2:c.303+43del	ENSP00000482568.2:n.303+43del
ENST00000646827.1:n.501+43del
ENST00000611718.1:c.157del	ENSP00000477953.1:p.Leu53CysfsTer19
ENST00000616379.1:c.303+43del	ENSP00000480616.1:n.303+43del
ENST00000617316.1:c.114+43del	ENSP00000482568.1:n.114+43del
NM_032790.3:c.303+43del , LRG_93t1:c.303+43del	NP_116179.2:n.303+43del