Canonical Allele Identifier: CA2621442564
Gene: ORAI1 HGNC NCBI

Linked Data

gnomAD v4: 12-121627143-CAGAGTG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627146_121627151del , CM000674.2:g.121627146_121627151del GRCh38
NC_000012.11:g.122065052_122065057del , CM000674.1:g.122065052_122065057del GRCh37
NC_000012.10:g.120549435_120549440del NCBI36
NG_007500.1:g.5572_5577del , LRG_93:g.5572_5577del

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+213_425+218del
ENST00000617316.2:c.303+96_303+101del ENSP00000482568.2:n.303+96_303+101del
ENST00000646827.1:n.501+96_501+101del
ENST00000611718.1:c.210_215del ENSP00000477953.1:p.Val71_Arg72del
ENST00000616379.1:c.303+96_303+101del ENSP00000480616.1:n.303+96_303+101del
ENST00000617316.1:c.114+96_114+101del ENSP00000482568.1:n.114+96_114+101del
NM_032790.3:c.303+96_303+101del , LRG_93t1:c.303+96_303+101del NP_116179.2:n.303+96_303+101del
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