Canonical Allele Identifier: CA920072825
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1568399282
gnomAD v4: 19-17826600-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826607del , CM000681.2:g.17826607del GRCh38
NC_000019.9:g.17937416del , CM000681.1:g.17937416del GRCh37
NC_000019.8:g.17798416del NCBI36
NG_007273.1:g.26391del , LRG_77:g.26391del

Transcript Alleles

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