Canonical Allele Identifier: CA2735867660
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs2147669923
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826842del , CM000681.2:g.17826842del GRCh38
NC_000019.9:g.17937651del , CM000681.1:g.17937651del GRCh37
NC_000019.8:g.17798651del NCBI36
NG_007273.1:g.26154del , LRG_77:g.26154del

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1837del ENSP00000513006.1:n.*1837del
ENST00000696967.1:n.2457del
ENST00000696968.1:n.513del
ENST00000696969.1:n.2237del
ENST00000458235.7:c.3280del MANE Select ENSP00000391676.1:p.Gln1094SerfsTer?
ENST00000458235.5:c.3280del ENSP00000391676.1:p.Gln1094SerfsTer?
ENST00000527031.5:n.2279-1528del
ENST00000527670.5:c.3280del ENSP00000432511.1:p.Gln1094SerfsTer?
NM_000215.3:c.3280del , LRG_77t1:c.3280del NP_000206.2:p.Gln1094SerfsTer?
XM_005259896.2:c.3409del XP_005259953.1:p.Gln1137SerfsTer?
XM_006722745.2:c.3280del XP_006722808.1:p.Gln1094SerfsTer?
XM_005259896.3:c.3409del XP_005259953.1:p.Gln1137SerfsTer?
NM_000215.4:c.3280del MANE Select NP_000206.2:p.Gln1094SerfsTer?
Search 100 bp 5'
Search 100 bp 3'