Canonical Allele Identifier: CA2697556406

Gene: JAK3

Linked Data

• ClinVar Variation Id: 2701655
• ClinVar RCV Id: RCV003510542

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843045del , CM000681.2:g.17843045del	GRCh38
NC_000019.9:g.17953854del , CM000681.1:g.17953854del	GRCh37
NC_000019.8:g.17814854del	NCBI36
NG_007273.1:g.9947del , LRG_77:g.9947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.548del	ENSP00000513006.1:p.Glu183GlyfsTer3
ENST00000458235.7:c.548del MANE Select	ENSP00000391676.1:p.Glu183GlyfsTer3
ENST00000458235.5:c.548del	ENSP00000391676.1:p.Glu183GlyfsTer3
ENST00000526008.5:n.648del
ENST00000527031.5:n.638del
ENST00000527670.5:c.548del	ENSP00000432511.1:p.Glu183GlyfsTer3
ENST00000528293.1:n.563del
ENST00000534444.1:c.548del	ENSP00000436421.1:p.Glu183GlyfsTer3
NM_000215.3:c.548del , LRG_77t1:c.548del	NP_000206.2:p.Glu183GlyfsTer3
XM_005259896.2:c.677del	XP_005259953.1:p.Glu226GlyfsTer3
XM_006722745.2:c.548del	XP_006722808.1:p.Glu183GlyfsTer3
XM_011527990.1:c.677del	XP_011526292.1:p.Glu226GlyfsTer3
XM_011527991.1:c.677del	XP_011526293.1:p.Glu226GlyfsTer3
XR_430137.2:n.687del
XM_005259896.3:c.677del	XP_005259953.1:p.Glu226GlyfsTer3
XM_011527991.2:c.677del	XP_011526293.1:p.Glu226GlyfsTer3
NM_000215.4:c.548del MANE Select	NP_000206.2:p.Glu183GlyfsTer3