Canonical Allele Identifier: CA2697556407

Gene: JAK3

Linked Data

• ClinVar Variation Id: 2764034
• ClinVar RCV Id: RCV003510216

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843188del , CM000681.2:g.17843188del	GRCh38
NC_000019.9:g.17953997del , CM000681.1:g.17953997del	GRCh37
NC_000019.8:g.17814997del	NCBI36
NG_007273.1:g.9804del , LRG_77:g.9804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.421-16del	ENSP00000513006.1:n.421-16del
ENST00000458235.7:c.421-16del MANE Select	ENSP00000391676.1:n.421-16del
ENST00000458235.5:c.421-16del	ENSP00000391676.1:n.421-16del
ENST00000526008.5:n.521-16del
ENST00000527031.5:n.511-16del
ENST00000527670.5:c.421-16del	ENSP00000432511.1:n.421-16del
ENST00000528293.1:n.436-16del
ENST00000534444.1:c.421-16del	ENSP00000436421.1:n.421-16del
NM_000215.3:c.421-16del , LRG_77t1:c.421-16del	NP_000206.2:n.421-16del
XM_005259896.2:c.550-16del	XP_005259953.1:n.550-16del
XM_006722745.2:c.421-16del	XP_006722808.1:n.421-16del
XM_011527990.1:c.550-16del	XP_011526292.1:n.550-16del
XM_011527991.1:c.550-16del	XP_011526293.1:n.550-16del
XR_430137.2:n.560-16del
XM_005259896.3:c.550-16del	XP_005259953.1:n.550-16del
XM_011527991.2:c.550-16del	XP_011526293.1:n.550-16del
NM_000215.4:c.421-16del MANE Select	NP_000206.2:n.421-16del