Canonical Allele Identifier: CA2326057507

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843138_17843139delinsAC , CM000681.2:g.17843138_17843139delinsAC	GRCh38
NC_000019.9:g.17953947_17953948delinsAC , CM000681.1:g.17953947_17953948delinsAC	GRCh37
NC_000019.8:g.17814947_17814948delinsAC	NCBI36
NG_007273.1:g.9853_9854delinsGT , LRG_77:g.9853_9854delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.454_455delinsGT	ENSP00000513006.1:p.Val152=
ENST00000458235.7:c.454_455delinsGT MANE Select	ENSP00000391676.1:p.Val152=
ENST00000458235.5:c.454_455delinsGT	ENSP00000391676.1:p.Val152=
ENST00000526008.5:n.554_555delinsGT
ENST00000527031.5:n.544_545delinsGT
ENST00000527670.5:c.454_455delinsGT	ENSP00000432511.1:p.Val152=
ENST00000528293.1:n.469_470delinsGT
ENST00000534444.1:c.454_455delinsGT	ENSP00000436421.1:p.Val152=
NM_000215.3:c.454_455delinsGT , LRG_77t1:c.454_455delinsGT	NP_000206.2:p.Val152=
XM_005259896.2:c.583_584delinsGT	XP_005259953.1:p.Val195=
XM_006722745.2:c.454_455delinsGT	XP_006722808.1:p.Val152=
XM_011527990.1:c.583_584delinsGT	XP_011526292.1:p.Val195=
XM_011527991.1:c.583_584delinsGT	XP_011526293.1:p.Val195=
XR_430137.2:n.593_594delinsGT
XM_005259896.3:c.583_584delinsGT	XP_005259953.1:p.Val195=
XM_011527991.2:c.583_584delinsGT	XP_011526293.1:p.Val195=
NM_000215.4:c.454_455delinsGT MANE Select	NP_000206.2:p.Val152=