Canonical Allele Identifier: CA2576716998
Gene: JAK3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826798_17826799del , CM000681.2:g.17826798_17826799del GRCh38
NC_000019.9:g.17937607_17937608del , CM000681.1:g.17937607_17937608del GRCh37
NC_000019.8:g.17798607_17798608del NCBI36
NG_007273.1:g.26193_26194del , LRG_77:g.26193_26194del

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1876_*1877del ENSP00000513006.1:n.*1876_*1877del
ENST00000696967.1:n.2496_2497del
ENST00000696968.1:n.552_553del
ENST00000696969.1:n.2276_2277del
ENST00000458235.7:c.3319_3320del MANE Select ENSP00000391676.1:p.Thr1107SerfsTer27
ENST00000458235.5:c.3319_3320del ENSP00000391676.1:p.Thr1107SerfsTer27
ENST00000527031.5:n.2279-1489_2279-1488del
ENST00000527670.5:c.3319_3320del ENSP00000432511.1:p.Thr1107SerfsTer27
NM_000215.3:c.3319_3320del , LRG_77t1:c.3319_3320del NP_000206.2:p.Thr1107SerfsTer27
XM_005259896.2:c.3448_3449del XP_005259953.1:p.Thr1150SerfsTer27
XM_006722745.2:c.3319_3320del XP_006722808.1:p.Thr1107SerfsTer27
XM_005259896.3:c.3448_3449del XP_005259953.1:p.Thr1150SerfsTer27
NM_000215.4:c.3319_3320del MANE Select NP_000206.2:p.Thr1107SerfsTer27
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