Canonical Allele Identifier: CA2326057948

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17844180_17844181delinsGC , CM000681.2:g.17844180_17844181delinsGC	GRCh38
NC_000019.9:g.17954989_17954990delinsGC , CM000681.1:g.17954989_17954990delinsGC	GRCh37
NC_000019.8:g.17815989_17815990delinsGC	NCBI36
NG_007273.1:g.8811_8812delinsGC , LRG_77:g.8811_8812delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.184+53_184+54delinsGC	ENSP00000513006.1:n.184+53_184+54delinsGC
ENST00000458235.7:c.184+53_184+54delinsGC MANE Select	ENSP00000391676.1:n.184+53_184+54delinsGC
ENST00000458235.5:c.184+53_184+54delinsGC	ENSP00000391676.1:n.184+53_184+54delinsGC
ENST00000526008.5:n.284+53_284+54delinsGC
ENST00000527031.5:n.274+53_274+54delinsGC
ENST00000527670.5:c.184+53_184+54delinsGC	ENSP00000432511.1:n.184+53_184+54delinsGC
ENST00000528293.1:n.323+53_323+54delinsGC
ENST00000534444.1:c.184+53_184+54delinsGC	ENSP00000436421.1:n.184+53_184+54delinsGC
NM_000215.3:c.184+53_184+54delinsGC , LRG_77t1:c.184+53_184+54delinsGC	NP_000206.2:n.184+53_184+54delinsGC
XM_005259896.2:c.313+53_313+54delinsGC	XP_005259953.1:n.313+53_313+54delinsGC
XM_006722745.2:c.184+53_184+54delinsGC	XP_006722808.1:n.184+53_184+54delinsGC
XM_011527990.1:c.313+53_313+54delinsGC	XP_011526292.1:n.313+53_313+54delinsGC
XM_011527991.1:c.313+53_313+54delinsGC	XP_011526293.1:n.313+53_313+54delinsGC
XR_430137.2:n.323+53_323+54delinsGC
XM_005259896.3:c.313+53_313+54delinsGC	XP_005259953.1:n.313+53_313+54delinsGC
XM_011527991.2:c.313+53_313+54delinsGC	XP_011526293.1:n.313+53_313+54delinsGC
NM_000215.4:c.184+53_184+54delinsGC MANE Select	NP_000206.2:n.184+53_184+54delinsGC