Canonical Allele Identifier: CA2621442550
Gene: ORAI1 HGNC NCBI

Linked Data

gnomAD v4: 12-121627121-TCTCTGG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627122_121627127del , CM000674.2:g.121627122_121627127del GRCh38
NC_000012.11:g.122065028_122065033del , CM000674.1:g.122065028_122065033del GRCh37
NC_000012.10:g.120549411_120549416del NCBI36
NG_007500.1:g.5548_5553del , LRG_93:g.5548_5553del

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+189_425+194del
ENST00000617316.2:c.303+72_303+77del ENSP00000482568.2:n.303+72_303+77del
ENST00000646827.1:n.501+72_501+77del
ENST00000611718.1:c.186_191del ENSP00000477953.1:p.Ser63_Gly64del
ENST00000616379.1:c.303+72_303+77del ENSP00000480616.1:n.303+72_303+77del
ENST00000617316.1:c.114+72_114+77del ENSP00000482568.1:n.114+72_114+77del
NM_032790.3:c.303+72_303+77del , LRG_93t1:c.303+72_303+77del NP_116179.2:n.303+72_303+77del
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