Canonical Allele Identifier: CA16620808
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1064795657

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17843068_17843069del , CM000681.2:g.17843068_17843069del GRCh38
NC_000019.9:g.17953877_17953878del , CM000681.1:g.17953877_17953878del GRCh37
NC_000019.8:g.17814877_17814878del NCBI36
NG_007273.1:g.9926_9927del , LRG_77:g.9926_9927del

Transcript Alleles

HGVS Amino-acid change
ENST00000526008.6:c.527_528del ENSP00000513006.1:p.Glu176AlafsTer?
ENST00000458235.7:c.527_528del MANE Select ENSP00000391676.1:p.Glu176AlafsTer?
ENST00000458235.5:c.527_528del ENSP00000391676.1:p.Glu176AlafsTer?
ENST00000526008.5:n.627_628del
ENST00000527031.5:n.617_618del
ENST00000527670.5:c.527_528del ENSP00000432511.1:p.Glu176AlafsTer?
ENST00000528293.1:n.542_543del
ENST00000534444.1:c.527_528del ENSP00000436421.1:p.Glu176AlafsTer?
NM_000215.3:c.527_528del , LRG_77t1:c.527_528del NP_000206.2:p.Glu176AlafsTer?
XM_005259896.2:c.656_657del XP_005259953.1:p.Glu219AlafsTer?
XM_006722745.2:c.527_528del XP_006722808.1:p.Glu176AlafsTer?
XM_011527990.1:c.656_657del XP_011526292.1:p.Glu219AlafsTer?
XM_011527991.1:c.656_657del XP_011526293.1:p.Glu219AlafsTer?
XR_430137.2:n.666_667del
XM_005259896.3:c.656_657del XP_005259953.1:p.Glu219AlafsTer?
XM_011527991.2:c.656_657del XP_011526293.1:p.Glu219AlafsTer?
NM_000215.4:c.527_528del MANE Select NP_000206.2:p.Glu176AlafsTer?