Canonical Allele Identifier: CA2326049433
Gene: JAK3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826600_17826601delinsGC , CM000681.2:g.17826600_17826601delinsGC GRCh38
NC_000019.9:g.17937409_17937410delinsGC , CM000681.1:g.17937409_17937410delinsGC GRCh37
NC_000019.8:g.17798409_17798410delinsGC NCBI36
NG_007273.1:g.26391_26392delinsGC , LRG_77:g.26391_26392delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*2074_*2075delinsGC ENSP00000513006.1:n.*2074_*2075delinsGC
ENST00000696967.1:n.2694_2695delinsGC
ENST00000696968.1:n.750_751delinsGC
ENST00000696969.1:n.2474_2475delinsGC
ENST00000458235.7:c.*142_*143delinsGC MANE Select ENSP00000391676.1:n.*142_*143delinsGC
ENST00000458235.5:c.*142_*143delinsGC ENSP00000391676.1:n.*142_*143delinsGC
ENST00000527031.5:n.2279-1291_2279-1290delinsGC
ENST00000527670.5:c.*142_*143delinsGC ENSP00000432511.1:n.*142_*143delinsGC
NM_000215.3:c.*142_*143delinsGC , LRG_77t1:c.*142_*143delinsGC NP_000206.2:n.*142_*143delinsGC
XM_005259896.2:c.*142_*143delinsGC XP_005259953.1:n.*142_*143delinsGC
XM_006722745.2:c.*142_*143delinsGC XP_006722808.1:n.*142_*143delinsGC
XM_005259896.3:c.*142_*143delinsGC XP_005259953.1:n.*142_*143delinsGC
NM_000215.4:c.*142_*143delinsGC MANE Select NP_000206.2:n.*142_*143delinsGC
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