Canonical Allele Identifier: CA2583421430
Gene: JAK3 HGNC NCBI

Linked Data

gnomAD v4: 19-17826621-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826626del , CM000681.2:g.17826626del GRCh38
NC_000019.9:g.17937435del , CM000681.1:g.17937435del GRCh37
NC_000019.8:g.17798435del NCBI36
NG_007273.1:g.26370del , LRG_77:g.26370del

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*2053del ENSP00000513006.1:n.*2053del
ENST00000696967.1:n.2673del
ENST00000696968.1:n.729del
ENST00000696969.1:n.2453del
ENST00000458235.7:c.*121del MANE Select ENSP00000391676.1:n.*121del
ENST00000458235.5:c.*121del ENSP00000391676.1:n.*121del
ENST00000527031.5:n.2279-1312del
ENST00000527670.5:c.*121del ENSP00000432511.1:n.*121del
NM_000215.3:c.*121del , LRG_77t1:c.*121del NP_000206.2:n.*121del
XM_005259896.2:c.*121del XP_005259953.1:n.*121del
XM_006722745.2:c.*121del XP_006722808.1:n.*121del
XM_005259896.3:c.*121del XP_005259953.1:n.*121del
NM_000215.4:c.*121del MANE Select NP_000206.2:n.*121del
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