Canonical Allele Identifier: CA2583421365
Gene: JAK3 HGNC NCBI

Linked Data

gnomAD v4: 19-17826567-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826570del , CM000681.2:g.17826570del GRCh38
NC_000019.9:g.17937379del , CM000681.1:g.17937379del GRCh37
NC_000019.8:g.17798379del NCBI36
NG_007273.1:g.26424del , LRG_77:g.26424del

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*2107del ENSP00000513006.1:n.*2107del
ENST00000696967.1:n.2727del
ENST00000696968.1:n.783del
ENST00000696969.1:n.2507del
ENST00000458235.7:c.*175del MANE Select ENSP00000391676.1:n.*175del
ENST00000458235.5:c.*175del ENSP00000391676.1:n.*175del
ENST00000527031.5:n.2279-1258del
ENST00000527670.5:c.*175del ENSP00000432511.1:n.*175del
NM_000215.3:c.*175del , LRG_77t1:c.*175del NP_000206.2:n.*175del
XM_005259896.2:c.*175del XP_005259953.1:n.*175del
XM_006722745.2:c.*175del XP_006722808.1:n.*175del
XM_005259896.3:c.*175del XP_005259953.1:n.*175del
NM_000215.4:c.*175del MANE Select NP_000206.2:n.*175del
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