Canonical Allele Identifier: CA783871699
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1280773956
MyVariant Identifiers: chr19:g.17937537_17937539del (hg19) chr19:g.17826728_17826730del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826728_17826730del , CM000681.2:g.17826728_17826730del GRCh38
NC_000019.9:g.17937537_17937539del , CM000681.1:g.17937537_17937539del GRCh37
NC_000019.8:g.17798537_17798539del NCBI36
NG_007273.1:g.26262_26264del , LRG_77:g.26262_26264del

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1945_*1947del ENSP00000513006.1:n.*1945_*1947del
ENST00000696967.1:n.2565_2567del
ENST00000696968.1:n.621_623del
ENST00000696969.1:n.2345_2347del
ENST00000458235.7:c.*13_*15del MANE Select ENSP00000391676.1:n.*13_*15del
ENST00000458235.5:c.*13_*15del ENSP00000391676.1:n.*13_*15del
ENST00000527031.5:n.2279-1420_2279-1418del
ENST00000527670.5:c.*13_*15del ENSP00000432511.1:n.*13_*15del
NM_000215.3:c.*13_*15del , LRG_77t1:c.*13_*15del NP_000206.2:n.*13_*15del
XM_005259896.2:c.*13_*15del XP_005259953.1:n.*13_*15del
XM_006722745.2:c.*13_*15del XP_006722808.1:n.*13_*15del
XM_005259896.3:c.*13_*15del XP_005259953.1:n.*13_*15del
NM_000215.4:c.*13_*15del MANE Select NP_000206.2:n.*13_*15del
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