Canonical Allele Identifier: CA2576716987
Gene: JAK3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826755_17826760del , CM000681.2:g.17826755_17826760del GRCh38
NC_000019.9:g.17937564_17937569del , CM000681.1:g.17937564_17937569del GRCh37
NC_000019.8:g.17798564_17798569del NCBI36
NG_007273.1:g.26235_26240del , LRG_77:g.26235_26240del

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1918_*1923del ENSP00000513006.1:n.*1918_*1923del
ENST00000696967.1:n.2538_2543del
ENST00000696968.1:n.594_599del
ENST00000696969.1:n.2318_2323del
ENST00000458235.7:c.3361_3366del MANE Select ENSP00000391676.1:p.Leu1121_Ser1122del
ENST00000458235.5:c.3361_3366del ENSP00000391676.1:p.Leu1121_Ser1122del
ENST00000527031.5:n.2279-1447_2279-1442del
ENST00000527670.5:c.3361_3366del ENSP00000432511.1:p.Leu1121_Ser1122del
NM_000215.3:c.3361_3366del , LRG_77t1:c.3361_3366del NP_000206.2:p.Leu1121_Ser1122del
XM_005259896.2:c.3490_3495del XP_005259953.1:p.Leu1164_Ser1165del
XM_006722745.2:c.3361_3366del XP_006722808.1:p.Leu1121_Ser1122del
XM_005259896.3:c.3490_3495del XP_005259953.1:p.Leu1164_Ser1165del
NM_000215.4:c.3361_3366del MANE Select NP_000206.2:p.Leu1121_Ser1122del
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