Canonical Allele Identifier: CA2621442541
Gene: ORAI1 HGNC NCBI

Linked Data

gnomAD v4: 12-121627104-C-CGGGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627105_121627106insGGAG , CM000674.2:g.121627105_121627106insGGAG GRCh38
NC_000012.11:g.122065011_122065012insGGAG , CM000674.1:g.122065011_122065012insGGAG GRCh37
NC_000012.10:g.120549394_120549395insGGAG NCBI36
NG_007500.1:g.5531_5532insGGAG , LRG_93:g.5531_5532insGGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+172_425+173insGGAG
ENST00000617316.2:c.303+55_303+56insGGAG ENSP00000482568.2:n.303+55_303+56insGGAG
ENST00000646827.1:n.501+55_501+56insGGAG
ENST00000611718.1:c.169_170insGGAG ENSP00000477953.1:p.Ala57GlyfsTer?
ENST00000616379.1:c.303+55_303+56insGGAG ENSP00000480616.1:n.303+55_303+56insGGAG
ENST00000617316.1:c.114+55_114+56insGGAG ENSP00000482568.1:n.114+55_114+56insGGAG
NM_032790.3:c.303+55_303+56insGGAG , LRG_93t1:c.303+55_303+56insGGAG NP_116179.2:n.303+55_303+56insGGAG
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