Canonical Allele Identifier: CA9301338
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs781343744
ExAC: 19:17937554 AT / A
gnomAD v2: 19-17937554-AT-A
gnomAD v4: 19-17826745-AT-A
MyVariant Identifiers: chr19:g.17937555del (hg19) chr19:g.17826746del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826746del , CM000681.2:g.17826746del GRCh38
NC_000019.9:g.17937555del , CM000681.1:g.17937555del GRCh37
NC_000019.8:g.17798555del NCBI36
NG_007273.1:g.26246del , LRG_77:g.26246del

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1929del ENSP00000513006.1:n.*1929del
ENST00000696967.1:n.2549del
ENST00000696968.1:n.605del
ENST00000696969.1:n.2329del
ENST00000458235.7:c.3372del MANE Select ENSP00000391676.1:p.Ter1125SerextTer13
ENST00000458235.5:c.3372del ENSP00000391676.1:p.Ter1125SerextTer13
ENST00000527031.5:n.2279-1436del
ENST00000527670.5:c.3372del ENSP00000432511.1:p.Ter1125SerextTer13
NM_000215.3:c.3372del , LRG_77t1:c.3372del NP_000206.2:p.Ter1125SerextTer13
XM_005259896.2:c.3501del XP_005259953.1:p.Ter1168SerextTer13
XM_006722745.2:c.3372del XP_006722808.1:p.Ter1125SerextTer13
XM_005259896.3:c.3501del XP_005259953.1:p.Ter1168SerextTer13
NM_000215.4:c.3372del MANE Select NP_000206.2:p.Ter1125SerextTer13
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