Canonical Allele Identifier: CA2067979318
Gene: ORAI1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627092_121627093delinsGC , CM000674.2:g.121627092_121627093delinsGC GRCh38
NC_000012.11:g.122064998_122064999delinsGC , CM000674.1:g.122064998_122064999delinsGC GRCh37
NC_000012.10:g.120549381_120549382delinsGC NCBI36
NG_007500.1:g.5518_5519delinsGC , LRG_93:g.5518_5519delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+159_425+160delinsGC
ENST00000617316.2:c.303+42_303+43delinsGC ENSP00000482568.2:n.303+42_303+43delinsGC
ENST00000646827.1:n.501+42_501+43delinsGC
ENST00000611718.1:c.156_157delinsGC ENSP00000477953.1:p.Arg52=
ENST00000616379.1:c.303+42_303+43delinsGC ENSP00000480616.1:n.303+42_303+43delinsGC
ENST00000617316.1:c.114+42_114+43delinsGC ENSP00000482568.1:n.114+42_114+43delinsGC
NM_032790.3:c.303+42_303+43delinsGC , LRG_93t1:c.303+42_303+43delinsGC NP_116179.2:n.303+42_303+43delinsGC
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