Canonical Allele Identifier: CA2576717409

Gene: JAK3

Linked Data

• dbSNP Id: rs2147699629

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843504_17843508del , CM000681.2:g.17843504_17843508del	GRCh38
NC_000019.9:g.17954313_17954317del , CM000681.1:g.17954313_17954317del	GRCh37
NC_000019.8:g.17815313_17815317del	NCBI36
NG_007273.1:g.9492_9496del , LRG_77:g.9492_9496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.309-9_309-5del	ENSP00000513006.1:n.309-9_309-5del
ENST00000458235.7:c.309-9_309-5del MANE Select	ENSP00000391676.1:n.309-9_309-5del
ENST00000458235.5:c.309-9_309-5del	ENSP00000391676.1:n.309-9_309-5del
ENST00000526008.5:n.409-9_409-5del
ENST00000527031.5:n.399-9_399-5del
ENST00000527670.5:c.309-9_309-5del	ENSP00000432511.1:n.309-9_309-5del
ENST00000528293.1:n.324-9_324-5del
ENST00000534444.1:c.309-9_309-5del	ENSP00000436421.1:n.309-9_309-5del
NM_000215.3:c.309-9_309-5del , LRG_77t1:c.309-9_309-5del	NP_000206.2:n.309-9_309-5del
XM_005259896.2:c.438-9_438-5del	XP_005259953.1:n.438-9_438-5del
XM_006722745.2:c.309-9_309-5del	XP_006722808.1:n.309-9_309-5del
XM_011527990.1:c.438-9_438-5del	XP_011526292.1:n.438-9_438-5del
XM_011527991.1:c.438-9_438-5del	XP_011526293.1:n.438-9_438-5del
XR_430137.2:n.448-9_448-5del
XM_005259896.3:c.438-9_438-5del	XP_005259953.1:n.438-9_438-5del
XM_011527991.2:c.438-9_438-5del	XP_011526293.1:n.438-9_438-5del
NM_000215.4:c.309-9_309-5del MANE Select	NP_000206.2:n.309-9_309-5del