Canonical Allele Identifier: CA2621442548
Gene: ORAI1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121627124_121627125del , CM000674.2:g.121627124_121627125del GRCh38
NC_000012.11:g.122065030_122065031del , CM000674.1:g.122065030_122065031del GRCh37
NC_000012.10:g.120549413_120549414del NCBI36
NG_007500.1:g.5550_5551del , LRG_93:g.5550_5551del

Transcript Alleles

HGVS Amino-acid Change
ENST00000698901.1:n.425+191_425+192del
ENST00000617316.2:c.303+74_303+75del ENSP00000482568.2:n.303+74_303+75del
ENST00000646827.1:n.501+74_501+75del
ENST00000611718.1:c.188_189del ENSP00000477953.1:p.Ser63TrpfsTer?
ENST00000616379.1:c.303+74_303+75del ENSP00000480616.1:n.303+74_303+75del
ENST00000617316.1:c.114+74_114+75del ENSP00000482568.1:n.114+74_114+75del
NM_032790.3:c.303+74_303+75del , LRG_93t1:c.303+74_303+75del NP_116179.2:n.303+74_303+75del