Canonical Allele Identifier: CA2735866089
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs2147669734
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826779del , CM000681.2:g.17826779del GRCh38
NC_000019.9:g.17937588del , CM000681.1:g.17937588del GRCh37
NC_000019.8:g.17798588del NCBI36
NG_007273.1:g.26215del , LRG_77:g.26215del

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1898del ENSP00000513006.1:n.*1898del
ENST00000696967.1:n.2518del
ENST00000696968.1:n.574del
ENST00000696969.1:n.2298del
ENST00000458235.7:c.3341del MANE Select ENSP00000391676.1:p.Pro1114GlnfsTer24
ENST00000458235.5:c.3341del ENSP00000391676.1:p.Pro1114GlnfsTer24
ENST00000527031.5:n.2279-1467del
ENST00000527670.5:c.3341del ENSP00000432511.1:p.Pro1114GlnfsTer24
NM_000215.3:c.3341del , LRG_77t1:c.3341del NP_000206.2:p.Pro1114GlnfsTer24
XM_005259896.2:c.3470del XP_005259953.1:p.Pro1157GlnfsTer24
XM_006722745.2:c.3341del XP_006722808.1:p.Pro1114GlnfsTer24
XM_005259896.3:c.3470del XP_005259953.1:p.Pro1157GlnfsTer24
NM_000215.4:c.3341del MANE Select NP_000206.2:p.Pro1114GlnfsTer24
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