Canonical Allele Identifier: CA2326057543

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843189_17843203delinsGGGAGCATCAGCTGA , CM000681.2:g.17843189_17843203delinsGGGAGCATCAGCTGA	GRCh38
NC_000019.9:g.17953998_17954012delinsGGGAGCATCAGCTGA , CM000681.1:g.17953998_17954012delinsGGGAGCATCAGCTGA	GRCh37
NC_000019.8:g.17814998_17815012delinsGGGAGCATCAGCTGA	NCBI36
NG_007273.1:g.9789_9803delinsTCAGCTGATGCTCCC , LRG_77:g.9789_9803delinsTCAGCTGATGCTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.421-31_421-17delinsTCAGCTGATGCTCCC	ENSP00000513006.1:n.421-31_421-17delinsTCAGCTGATGCTCCC
ENST00000458235.7:c.421-31_421-17delinsTCAGCTGATGCTCCC MANE Select	ENSP00000391676.1:n.421-31_421-17delinsTCAGCTGATGCTCCC
ENST00000458235.5:c.421-31_421-17delinsTCAGCTGATGCTCCC	ENSP00000391676.1:n.421-31_421-17delinsTCAGCTGATGCTCCC
ENST00000526008.5:n.521-31_521-17delinsTCAGCTGATGCTCCC
ENST00000527031.5:n.511-31_511-17delinsTCAGCTGATGCTCCC
ENST00000527670.5:c.421-31_421-17delinsTCAGCTGATGCTCCC	ENSP00000432511.1:n.421-31_421-17delinsTCAGCTGATGCTCCC
ENST00000528293.1:n.436-31_436-17delinsTCAGCTGATGCTCCC
ENST00000534444.1:c.421-31_421-17delinsTCAGCTGATGCTCCC	ENSP00000436421.1:n.421-31_421-17delinsTCAGCTGATGCTCCC
NM_000215.3:c.421-31_421-17delinsTCAGCTGATGCTCCC , LRG_77t1:c.421-31_421-17delinsTCAGCTGATGCTCCC	NP_000206.2:n.421-31_421-17delinsTCAGCTGATGCTCCC
XM_005259896.2:c.550-31_550-17delinsTCAGCTGATGCTCCC	XP_005259953.1:n.550-31_550-17delinsTCAGCTGATGCTCCC
XM_006722745.2:c.421-31_421-17delinsTCAGCTGATGCTCCC	XP_006722808.1:n.421-31_421-17delinsTCAGCTGATGCTCCC
XM_011527990.1:c.550-31_550-17delinsTCAGCTGATGCTCCC	XP_011526292.1:n.550-31_550-17delinsTCAGCTGATGCTCCC
XM_011527991.1:c.550-31_550-17delinsTCAGCTGATGCTCCC	XP_011526293.1:n.550-31_550-17delinsTCAGCTGATGCTCCC
XR_430137.2:n.560-31_560-17delinsTCAGCTGATGCTCCC
XM_005259896.3:c.550-31_550-17delinsTCAGCTGATGCTCCC	XP_005259953.1:n.550-31_550-17delinsTCAGCTGATGCTCCC
XM_011527991.2:c.550-31_550-17delinsTCAGCTGATGCTCCC	XP_011526293.1:n.550-31_550-17delinsTCAGCTGATGCTCCC
NM_000215.4:c.421-31_421-17delinsTCAGCTGATGCTCCC MANE Select	NP_000206.2:n.421-31_421-17delinsTCAGCTGATGCTCCC