Canonical Allele Identifier: CA2583421449
Gene: JAK3 HGNC NCBI

Linked Data

gnomAD v4: 19-17826638-TAG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826641_17826642del , CM000681.2:g.17826641_17826642del GRCh38
NC_000019.9:g.17937450_17937451del , CM000681.1:g.17937450_17937451del GRCh37
NC_000019.8:g.17798450_17798451del NCBI36
NG_007273.1:g.26352_26353del , LRG_77:g.26352_26353del

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*2035_*2036del ENSP00000513006.1:n.*2035_*2036del
ENST00000696967.1:n.2655_2656del
ENST00000696968.1:n.711_712del
ENST00000696969.1:n.2435_2436del
ENST00000458235.7:c.*103_*104del MANE Select ENSP00000391676.1:n.*103_*104del
ENST00000458235.5:c.*103_*104del ENSP00000391676.1:n.*103_*104del
ENST00000527031.5:n.2279-1330_2279-1329del
ENST00000527670.5:c.*103_*104del ENSP00000432511.1:n.*103_*104del
NM_000215.3:c.*103_*104del , LRG_77t1:c.*103_*104del NP_000206.2:n.*103_*104del
XM_005259896.2:c.*103_*104del XP_005259953.1:n.*103_*104del
XM_006722745.2:c.*103_*104del XP_006722808.1:n.*103_*104del
XM_005259896.3:c.*103_*104del XP_005259953.1:n.*103_*104del
NM_000215.4:c.*103_*104del MANE Select NP_000206.2:n.*103_*104del
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