Canonical Allele Identifier: CA2527247205

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843064_17843065del , CM000681.2:g.17843064_17843065del	GRCh38
NC_000019.9:g.17953873_17953874del , CM000681.1:g.17953873_17953874del	GRCh37
NC_000019.8:g.17814873_17814874del	NCBI36
NG_007273.1:g.9927_9928del , LRG_77:g.9927_9928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.528_529del	ENSP00000513006.1:p.Gln177GlyfsTer?
ENST00000458235.7:c.528_529del MANE Select	ENSP00000391676.1:p.Gln177GlyfsTer?
ENST00000458235.5:c.528_529del	ENSP00000391676.1:p.Gln177GlyfsTer?
ENST00000526008.5:n.628_629del
ENST00000527031.5:n.618_619del
ENST00000527670.5:c.528_529del	ENSP00000432511.1:p.Gln177GlyfsTer?
ENST00000528293.1:n.543_544del
ENST00000534444.1:c.528_529del	ENSP00000436421.1:p.Gln177GlyfsTer?
NM_000215.3:c.528_529del , LRG_77t1:c.528_529del	NP_000206.2:p.Gln177GlyfsTer?
XM_005259896.2:c.657_658del	XP_005259953.1:p.Gln220GlyfsTer?
XM_006722745.2:c.528_529del	XP_006722808.1:p.Gln177GlyfsTer?
XM_011527990.1:c.657_658del	XP_011526292.1:p.Gln220GlyfsTer?
XM_011527991.1:c.657_658del	XP_011526293.1:p.Gln220GlyfsTer?
XR_430137.2:n.667_668del
XM_005259896.3:c.657_658del	XP_005259953.1:p.Gln220GlyfsTer?
XM_011527991.2:c.657_658del	XP_011526293.1:p.Gln220GlyfsTer?
NM_000215.4:c.528_529del MANE Select	NP_000206.2:p.Gln177GlyfsTer?