Canonical Allele Identifier: CA2326057909

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17844089_17844090delinsAC , CM000681.2:g.17844089_17844090delinsAC	GRCh38
NC_000019.9:g.17954898_17954899delinsAC , CM000681.1:g.17954898_17954899delinsAC	GRCh37
NC_000019.8:g.17815898_17815899delinsAC	NCBI36
NG_007273.1:g.8902_8903delinsGT , LRG_77:g.8902_8903delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.184+144_184+145delinsGT	ENSP00000513006.1:n.184+144_184+145delinsGT
ENST00000458235.7:c.184+144_184+145delinsGT MANE Select	ENSP00000391676.1:n.184+144_184+145delinsGT
ENST00000458235.5:c.184+144_184+145delinsGT	ENSP00000391676.1:n.184+144_184+145delinsGT
ENST00000526008.5:n.284+144_284+145delinsGT
ENST00000527031.5:n.274+144_274+145delinsGT
ENST00000527670.5:c.184+144_184+145delinsGT	ENSP00000432511.1:n.184+144_184+145delinsGT
ENST00000528293.1:n.323+144_323+145delinsGT
ENST00000534444.1:c.184+144_184+145delinsGT	ENSP00000436421.1:n.184+144_184+145delinsGT
NM_000215.3:c.184+144_184+145delinsGT , LRG_77t1:c.184+144_184+145delinsGT	NP_000206.2:n.184+144_184+145delinsGT
XM_005259896.2:c.313+144_313+145delinsGT	XP_005259953.1:n.313+144_313+145delinsGT
XM_006722745.2:c.184+144_184+145delinsGT	XP_006722808.1:n.184+144_184+145delinsGT
XM_011527990.1:c.313+144_313+145delinsGT	XP_011526292.1:n.313+144_313+145delinsGT
XM_011527991.1:c.313+144_313+145delinsGT	XP_011526293.1:n.313+144_313+145delinsGT
XR_430137.2:n.323+144_323+145delinsGT
XM_005259896.3:c.313+144_313+145delinsGT	XP_005259953.1:n.313+144_313+145delinsGT
XM_011527991.2:c.313+144_313+145delinsGT	XP_011526293.1:n.313+144_313+145delinsGT
NM_000215.4:c.184+144_184+145delinsGT MANE Select	NP_000206.2:n.184+144_184+145delinsGT