Canonical Allele Identifier: CA2695228404

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834623_17834624delinsG , CM000681.2:g.17834623_17834624delinsG	GRCh38
NC_000019.9:g.17945432_17945433delinsG , CM000681.1:g.17945432_17945433delinsG	GRCh37
NC_000019.8:g.17806432_17806433delinsG	NCBI36
NG_007273.1:g.18368_18369delinsC , LRG_77:g.18368_18369delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*854_*855delinsC	ENSP00000513006.1:n.*854_*855delinsC
ENST00000696967.1:n.1474_1475delinsC
ENST00000696970.1:n.952_953delinsC
ENST00000458235.7:c.2297_2298delinsC MANE Select	ENSP00000391676.1:p.Gln766ProfsTer?
ENST00000458235.5:c.2297_2298delinsC	ENSP00000391676.1:p.Gln766ProfsTer?
ENST00000527031.5:n.2278+2103_2278+2104delinsC
ENST00000527670.5:c.2297_2298delinsC	ENSP00000432511.1:p.Gln766ProfsTer?
ENST00000534444.1:c.2297_2298delinsC	ENSP00000436421.1:p.Gln766ProfsTer?
NM_000215.3:c.2297_2298delinsC , LRG_77t1:c.2297_2298delinsC	NP_000206.2:p.Gln766ProfsTer?
XM_005259896.2:c.2426_2427delinsC	XP_005259953.1:p.Gln809ProfsTer?
XM_006722745.2:c.2297_2298delinsC	XP_006722808.1:p.Gln766ProfsTer?
XM_011527990.1:c.2426_2427delinsC	XP_011526292.1:p.Gln809ProfsTer?
XR_430137.2:n.2436_2437delinsC
XM_005259896.3:c.2426_2427delinsC	XP_005259953.1:p.Gln809ProfsTer?
NM_000215.4:c.2297_2298delinsC MANE Select	NP_000206.2:p.Gln766ProfsTer?