Canonical Allele Identifier: CA2326049489
Gene: JAK3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826727_17826730delinsGGTC , CM000681.2:g.17826727_17826730delinsGGTC GRCh38
NC_000019.9:g.17937536_17937539delinsGGTC , CM000681.1:g.17937536_17937539delinsGGTC GRCh37
NC_000019.8:g.17798536_17798539delinsGGTC NCBI36
NG_007273.1:g.26262_26265delinsGACC , LRG_77:g.26262_26265delinsGACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1945_*1948delinsGACC ENSP00000513006.1:n.*1945_*1948delinsGACC
ENST00000696967.1:n.2565_2568delinsGACC
ENST00000696968.1:n.621_624delinsGACC
ENST00000696969.1:n.2345_2348delinsGACC
ENST00000458235.7:c.*13_*16delinsGACC MANE Select ENSP00000391676.1:n.*13_*16delinsGACC
ENST00000458235.5:c.*13_*16delinsGACC ENSP00000391676.1:n.*13_*16delinsGACC
ENST00000527031.5:n.2279-1420_2279-1417delinsGACC
ENST00000527670.5:c.*13_*16delinsGACC ENSP00000432511.1:n.*13_*16delinsGACC
NM_000215.3:c.*13_*16delinsGACC , LRG_77t1:c.*13_*16delinsGACC NP_000206.2:n.*13_*16delinsGACC
XM_005259896.2:c.*13_*16delinsGACC XP_005259953.1:n.*13_*16delinsGACC
XM_006722745.2:c.*13_*16delinsGACC XP_006722808.1:n.*13_*16delinsGACC
XM_005259896.3:c.*13_*16delinsGACC XP_005259953.1:n.*13_*16delinsGACC
NM_000215.4:c.*13_*16delinsGACC MANE Select NP_000206.2:n.*13_*16delinsGACC
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