Canonical Allele Identifier: CA2569181536

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843070_17843071insAG , CM000681.2:g.17843070_17843071insAG	GRCh38
NC_000019.9:g.17953879_17953880insAG , CM000681.1:g.17953879_17953880insAG	GRCh37
NC_000019.8:g.17814879_17814880insAG	NCBI36
NG_007273.1:g.9922_9923insTC , LRG_77:g.9922_9923insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.523_524insTC	ENSP00000513006.1:p.Arg175LeufsTer12
ENST00000458235.7:c.523_524insTC MANE Select	ENSP00000391676.1:p.Arg175LeufsTer12
ENST00000458235.5:c.523_524insTC	ENSP00000391676.1:p.Arg175LeufsTer12
ENST00000526008.5:n.623_624insTC
ENST00000527031.5:n.613_614insTC
ENST00000527670.5:c.523_524insTC	ENSP00000432511.1:p.Arg175LeufsTer12
ENST00000528293.1:n.538_539insTC
ENST00000534444.1:c.523_524insTC	ENSP00000436421.1:p.Arg175LeufsTer12
NM_000215.3:c.523_524insTC , LRG_77t1:c.523_524insTC	NP_000206.2:p.Arg175LeufsTer12
XM_005259896.2:c.652_653insTC	XP_005259953.1:p.Arg218LeufsTer12
XM_006722745.2:c.523_524insTC	XP_006722808.1:p.Arg175LeufsTer12
XM_011527990.1:c.652_653insTC	XP_011526292.1:p.Arg218LeufsTer12
XM_011527991.1:c.652_653insTC	XP_011526293.1:p.Arg218LeufsTer12
XR_430137.2:n.662_663insTC
XM_005259896.3:c.652_653insTC	XP_005259953.1:p.Arg218LeufsTer12
XM_011527991.2:c.652_653insTC	XP_011526293.1:p.Arg218LeufsTer12
NM_000215.4:c.523_524insTC MANE Select	NP_000206.2:p.Arg175LeufsTer12