Canonical Allele Identifier: CA2583421594
Gene: JAK3 HGNC NCBI

Linked Data

gnomAD v4: 19-17827040-CAT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17827041_17827042del , CM000681.2:g.17827041_17827042del GRCh38
NC_000019.9:g.17937850_17937851del , CM000681.1:g.17937850_17937851del GRCh37
NC_000019.8:g.17798850_17798851del NCBI36
NG_007273.1:g.25950_25951del , LRG_77:g.25950_25951del

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1765-132_*1765-131del ENSP00000513006.1:n.*1765-132_*1765-131del
ENST00000696967.1:n.2385-132_2385-131del
ENST00000696968.1:n.441-132_441-131del
ENST00000696969.1:n.2165-132_2165-131del
ENST00000458235.7:c.3208-132_3208-131del MANE Select ENSP00000391676.1:n.3208-132_3208-131del
ENST00000458235.5:c.3208-132_3208-131del ENSP00000391676.1:n.3208-132_3208-131del
ENST00000527031.5:n.2279-1732_2279-1731del
ENST00000527670.5:c.3208-132_3208-131del ENSP00000432511.1:n.3208-132_3208-131del
NM_000215.3:c.3208-132_3208-131del , LRG_77t1:c.3208-132_3208-131del NP_000206.2:n.3208-132_3208-131del
XM_005259896.2:c.3337-132_3337-131del XP_005259953.1:n.3337-132_3337-131del
XM_006722745.2:c.3208-132_3208-131del XP_006722808.1:n.3208-132_3208-131del
XM_005259896.3:c.3337-132_3337-131del XP_005259953.1:n.3337-132_3337-131del
NM_000215.4:c.3208-132_3208-131del MANE Select NP_000206.2:n.3208-132_3208-131del
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