Canonical Allele Identifier: CA2326057915

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17844107_17844110delinsACTC , CM000681.2:g.17844107_17844110delinsACTC	GRCh38
NC_000019.9:g.17954916_17954919delinsACTC , CM000681.1:g.17954916_17954919delinsACTC	GRCh37
NC_000019.8:g.17815916_17815919delinsACTC	NCBI36
NG_007273.1:g.8882_8885delinsGAGT , LRG_77:g.8882_8885delinsGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.184+124_184+127delinsGAGT	ENSP00000513006.1:n.184+124_184+127delinsGAGT
ENST00000458235.7:c.184+124_184+127delinsGAGT MANE Select	ENSP00000391676.1:n.184+124_184+127delinsGAGT
ENST00000458235.5:c.184+124_184+127delinsGAGT	ENSP00000391676.1:n.184+124_184+127delinsGAGT
ENST00000526008.5:n.284+124_284+127delinsGAGT
ENST00000527031.5:n.274+124_274+127delinsGAGT
ENST00000527670.5:c.184+124_184+127delinsGAGT	ENSP00000432511.1:n.184+124_184+127delinsGAGT
ENST00000528293.1:n.323+124_323+127delinsGAGT
ENST00000534444.1:c.184+124_184+127delinsGAGT	ENSP00000436421.1:n.184+124_184+127delinsGAGT
NM_000215.3:c.184+124_184+127delinsGAGT , LRG_77t1:c.184+124_184+127delinsGAGT	NP_000206.2:n.184+124_184+127delinsGAGT
XM_005259896.2:c.313+124_313+127delinsGAGT	XP_005259953.1:n.313+124_313+127delinsGAGT
XM_006722745.2:c.184+124_184+127delinsGAGT	XP_006722808.1:n.184+124_184+127delinsGAGT
XM_011527990.1:c.313+124_313+127delinsGAGT	XP_011526292.1:n.313+124_313+127delinsGAGT
XM_011527991.1:c.313+124_313+127delinsGAGT	XP_011526293.1:n.313+124_313+127delinsGAGT
XR_430137.2:n.323+124_323+127delinsGAGT
XM_005259896.3:c.313+124_313+127delinsGAGT	XP_005259953.1:n.313+124_313+127delinsGAGT
XM_011527991.2:c.313+124_313+127delinsGAGT	XP_011526293.1:n.313+124_313+127delinsGAGT
NM_000215.4:c.184+124_184+127delinsGAGT MANE Select	NP_000206.2:n.184+124_184+127delinsGAGT