Canonical Allele Identifier: CA994140824
Gene: JAK3 HGNC NCBI

Linked Data

gnomAD v3: 19-17827060-A-AAC
gnomAD v4: 19-17827060-A-AAC
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17827060_17827061insAC , CM000681.2:g.17827060_17827061insAC GRCh38
NC_000019.9:g.17937869_17937870insAC , CM000681.1:g.17937869_17937870insAC GRCh37
NC_000019.8:g.17798869_17798870insAC NCBI36
NG_007273.1:g.25931_25932insGT , LRG_77:g.25931_25932insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1765-151_*1765-150insGT ENSP00000513006.1:n.*1765-151_*1765-150insGT
ENST00000696967.1:n.2385-151_2385-150insGT
ENST00000696968.1:n.441-151_441-150insGT
ENST00000696969.1:n.2165-151_2165-150insGT
ENST00000458235.7:c.3208-151_3208-150insGT MANE Select ENSP00000391676.1:n.3208-151_3208-150insGT
ENST00000458235.5:c.3208-151_3208-150insGT ENSP00000391676.1:n.3208-151_3208-150insGT
ENST00000527031.5:n.2279-1751_2279-1750insGT
ENST00000527670.5:c.3208-151_3208-150insGT ENSP00000432511.1:n.3208-151_3208-150insGT
NM_000215.3:c.3208-151_3208-150insGT , LRG_77t1:c.3208-151_3208-150insGT NP_000206.2:n.3208-151_3208-150insGT
XM_005259896.2:c.3337-151_3337-150insGT XP_005259953.1:n.3337-151_3337-150insGT
XM_006722745.2:c.3208-151_3208-150insGT XP_006722808.1:n.3208-151_3208-150insGT
XM_005259896.3:c.3337-151_3337-150insGT XP_005259953.1:n.3337-151_3337-150insGT
NM_000215.4:c.3208-151_3208-150insGT MANE Select NP_000206.2:n.3208-151_3208-150insGT
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