Canonical Allele Identifier: CA2735876206

Gene: JAK3

Linked Data

• dbSNP Id: rs2147681844

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834707_17834708insAGTGGACAGAGC , CM000681.2:g.17834707_17834708insAGTGGACAGAGC	GRCh38
NC_000019.9:g.17945516_17945517insAGTGGACAGAGC , CM000681.1:g.17945516_17945517insAGTGGACAGAGC	GRCh37
NC_000019.8:g.17806516_17806517insAGTGGACAGAGC	NCBI36
NG_007273.1:g.18284_18285insGCTCTGTCCACT , LRG_77:g.18284_18285insGCTCTGTCCACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*770_*771insGCTCTGTCCACT	ENSP00000513006.1:n.*770_*771insGCTCTGTCCACT
ENST00000696967.1:n.1390_1391insGCTCTGTCCACT
ENST00000696970.1:n.868_869insGCTCTGTCCACT
ENST00000458235.7:c.2213_2214insGCTCTGTCCACT MANE Select	ENSP00000391676.1:p.Tyr738Ter
ENST00000458235.5:c.2213_2214insGCTCTGTCCACT	ENSP00000391676.1:p.Tyr738Ter
ENST00000527031.5:n.2278+2019_2278+2020insGCTCTGTCCACT
ENST00000527670.5:c.2213_2214insGCTCTGTCCACT	ENSP00000432511.1:p.Tyr738Ter
ENST00000534444.1:c.2213_2214insGCTCTGTCCACT	ENSP00000436421.1:p.Tyr738Ter
NM_000215.3:c.2213_2214insGCTCTGTCCACT , LRG_77t1:c.2213_2214insGCTCTGTCCACT	NP_000206.2:p.Tyr738Ter
XM_005259896.2:c.2342_2343insGCTCTGTCCACT	XP_005259953.1:p.Tyr781Ter
XM_006722745.2:c.2213_2214insGCTCTGTCCACT	XP_006722808.1:p.Tyr738Ter
XM_011527990.1:c.2342_2343insGCTCTGTCCACT	XP_011526292.1:p.Tyr781Ter
XR_430137.2:n.2352_2353insGCTCTGTCCACT
XM_005259896.3:c.2342_2343insGCTCTGTCCACT	XP_005259953.1:p.Tyr781Ter
NM_000215.4:c.2213_2214insGCTCTGTCCACT MANE Select	NP_000206.2:p.Tyr738Ter