Canonical Allele Identifier: CA2621442552
Gene: ORAI1 HGNC NCBI

Linked Data

gnomAD v4: 12-121627123-T-TCTGGGCGGG
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627125_121627133dup , CM000674.2:g.121627125_121627133dup GRCh38
NC_000012.11:g.122065031_122065039dup , CM000674.1:g.122065031_122065039dup GRCh37
NC_000012.10:g.120549414_120549422dup NCBI36
NG_007500.1:g.5551_5559dup , LRG_93:g.5551_5559dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+192_425+200dup
ENST00000617316.2:c.303+75_303+83dup ENSP00000482568.2:n.303+75_303+83dup
ENST00000646827.1:n.501+75_501+83dup
ENST00000611718.1:c.189_197dup ENSP00000477953.1:p.Ala66_Gly67insGlyArgAla
ENST00000616379.1:c.303+75_303+83dup ENSP00000480616.1:n.303+75_303+83dup
ENST00000617316.1:c.114+75_114+83dup ENSP00000482568.1:n.114+75_114+83dup
NM_032790.3:c.303+75_303+83dup , LRG_93t1:c.303+75_303+83dup NP_116179.2:n.303+75_303+83dup
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