Canonical Allele Identifier: CA994140708
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs2094204790
gnomAD v3: 19-17826827-C-CA
gnomAD v4: 19-17826827-C-CA
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826828dup , CM000681.2:g.17826828dup GRCh38
NC_000019.9:g.17937637dup , CM000681.1:g.17937637dup GRCh37
NC_000019.8:g.17798637dup NCBI36
NG_007273.1:g.26164dup , LRG_77:g.26164dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1847dup ENSP00000513006.1:n.*1847dup
ENST00000696967.1:n.2467dup
ENST00000696968.1:n.523dup
ENST00000696969.1:n.2247dup
ENST00000458235.7:c.3290dup MANE Select ENSP00000391676.1:p.Met1097IlefsTer10
ENST00000458235.5:c.3290dup ENSP00000391676.1:p.Met1097IlefsTer10
ENST00000527031.5:n.2279-1518dup
ENST00000527670.5:c.3290dup ENSP00000432511.1:p.Met1097IlefsTer10
NM_000215.3:c.3290dup , LRG_77t1:c.3290dup NP_000206.2:p.Met1097IlefsTer10
XM_005259896.2:c.3419dup XP_005259953.1:p.Met1140IlefsTer10
XM_006722745.2:c.3290dup XP_006722808.1:p.Met1097IlefsTer10
XM_005259896.3:c.3419dup XP_005259953.1:p.Met1140IlefsTer10
NM_000215.4:c.3290dup MANE Select NP_000206.2:p.Met1097IlefsTer10
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