Canonical Allele Identifier: CA2326057895

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17844041_17844059delinsCTCCGTCTGCACAGGCCAT , CM000681.2:g.17844041_17844059delinsCTCCGTCTGCACAGGCCAT	GRCh38
NC_000019.9:g.17954850_17954868delinsCTCCGTCTGCACAGGCCAT , CM000681.1:g.17954850_17954868delinsCTCCGTCTGCACAGGCCAT	GRCh37
NC_000019.8:g.17815850_17815868delinsCTCCGTCTGCACAGGCCAT	NCBI36
NG_007273.1:g.8933_8951delinsATGGCCTGTGCAGACGGAG , LRG_77:g.8933_8951delinsATGGCCTGTGCAGACGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.185-159_185-141delinsATGGCCTGTGCAGACGGAG	ENSP00000513006.1:n.185-159_185-141delinsATGGCCTGTGCAGACGGAG
ENST00000458235.7:c.185-159_185-141delinsATGGCCTGTGCAGACGGAG MANE Select	ENSP00000391676.1:n.185-159_185-141delinsATGGCCTGTGCAGACGGAG
ENST00000458235.5:c.185-159_185-141delinsATGGCCTGTGCAGACGGAG	ENSP00000391676.1:n.185-159_185-141delinsATGGCCTGTGCAGACGGAG
ENST00000526008.5:n.285-159_285-141delinsATGGCCTGTGCAGACGGAG
ENST00000527031.5:n.275-159_275-141delinsATGGCCTGTGCAGACGGAG
ENST00000527670.5:c.185-159_185-141delinsATGGCCTGTGCAGACGGAG	ENSP00000432511.1:n.185-159_185-141delinsATGGCCTGTGCAGACGGAG
ENST00000528293.1:n.323+175_323+193delinsATGGCCTGTGCAGACGGAG
ENST00000534444.1:c.185-159_185-141delinsATGGCCTGTGCAGACGGAG	ENSP00000436421.1:n.185-159_185-141delinsATGGCCTGTGCAGACGGAG
NM_000215.3:c.185-159_185-141delinsATGGCCTGTGCAGACGGAG , LRG_77t1:c.185-159_185-141delinsATGGCCTGTGCAGACGGAG	NP_000206.2:n.185-159_185-141delinsATGGCCTGTGCAGACGGAG
XM_005259896.2:c.314-159_314-141delinsATGGCCTGTGCAGACGGAG	XP_005259953.1:n.314-159_314-141delinsATGGCCTGTGCAGACGGAG
XM_006722745.2:c.185-159_185-141delinsATGGCCTGTGCAGACGGAG	XP_006722808.1:n.185-159_185-141delinsATGGCCTGTGCAGACGGAG
XM_011527990.1:c.314-159_314-141delinsATGGCCTGTGCAGACGGAG	XP_011526292.1:n.314-159_314-141delinsATGGCCTGTGCAGACGGAG
XM_011527991.1:c.314-159_314-141delinsATGGCCTGTGCAGACGGAG	XP_011526293.1:n.314-159_314-141delinsATGGCCTGTGCAGACGGAG
XR_430137.2:n.324-159_324-141delinsATGGCCTGTGCAGACGGAG
XM_005259896.3:c.314-159_314-141delinsATGGCCTGTGCAGACGGAG	XP_005259953.1:n.314-159_314-141delinsATGGCCTGTGCAGACGGAG
XM_011527991.2:c.314-159_314-141delinsATGGCCTGTGCAGACGGAG	XP_011526293.1:n.314-159_314-141delinsATGGCCTGTGCAGACGGAG
NM_000215.4:c.185-159_185-141delinsATGGCCTGTGCAGACGGAG MANE Select	NP_000206.2:n.185-159_185-141delinsATGGCCTGTGCAGACGGAG