Canonical Allele Identifier: CA2583421466
Gene: JAK3 HGNC NCBI

Linked Data

gnomAD v4: 19-17826667-CAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826672_17826673del , CM000681.2:g.17826672_17826673del GRCh38
NC_000019.9:g.17937481_17937482del , CM000681.1:g.17937481_17937482del GRCh37
NC_000019.8:g.17798481_17798482del NCBI36
NG_007273.1:g.26323_26324del , LRG_77:g.26323_26324del

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*2006_*2007del ENSP00000513006.1:n.*2006_*2007del
ENST00000696967.1:n.2626_2627del
ENST00000696968.1:n.682_683del
ENST00000696969.1:n.2406_2407del
ENST00000458235.7:c.*74_*75del MANE Select ENSP00000391676.1:n.*74_*75del
ENST00000458235.5:c.*74_*75del ENSP00000391676.1:n.*74_*75del
ENST00000527031.5:n.2279-1359_2279-1358del
ENST00000527670.5:c.*74_*75del ENSP00000432511.1:n.*74_*75del
NM_000215.3:c.*74_*75del , LRG_77t1:c.*74_*75del NP_000206.2:n.*74_*75del
XM_005259896.2:c.*74_*75del XP_005259953.1:n.*74_*75del
XM_006722745.2:c.*74_*75del XP_006722808.1:n.*74_*75del
XM_005259896.3:c.*74_*75del XP_005259953.1:n.*74_*75del
NM_000215.4:c.*74_*75del MANE Select NP_000206.2:n.*74_*75del
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