Canonical Allele Identifier: CA2326057495

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843108_17843111delinsCACT , CM000681.2:g.17843108_17843111delinsCACT	GRCh38
NC_000019.9:g.17953917_17953920delinsCACT , CM000681.1:g.17953917_17953920delinsCACT	GRCh37
NC_000019.8:g.17814917_17814920delinsCACT	NCBI36
NG_007273.1:g.9881_9884delinsAGTG , LRG_77:g.9881_9884delinsAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.482_485delinsAGTG	ENSP00000513006.1:p.Glu161=
ENST00000458235.7:c.482_485delinsAGTG MANE Select	ENSP00000391676.1:p.Glu161=
ENST00000458235.5:c.482_485delinsAGTG	ENSP00000391676.1:p.Glu161=
ENST00000526008.5:n.582_585delinsAGTG
ENST00000527031.5:n.572_575delinsAGTG
ENST00000527670.5:c.482_485delinsAGTG	ENSP00000432511.1:p.Glu161=
ENST00000528293.1:n.497_500delinsAGTG
ENST00000534444.1:c.482_485delinsAGTG	ENSP00000436421.1:p.Glu161=
NM_000215.3:c.482_485delinsAGTG , LRG_77t1:c.482_485delinsAGTG	NP_000206.2:p.Glu161=
XM_005259896.2:c.611_614delinsAGTG	XP_005259953.1:p.Glu204=
XM_006722745.2:c.482_485delinsAGTG	XP_006722808.1:p.Glu161=
XM_011527990.1:c.611_614delinsAGTG	XP_011526292.1:p.Glu204=
XM_011527991.1:c.611_614delinsAGTG	XP_011526293.1:p.Glu204=
XR_430137.2:n.621_624delinsAGTG
XM_005259896.3:c.611_614delinsAGTG	XP_005259953.1:p.Glu204=
XM_011527991.2:c.611_614delinsAGTG	XP_011526293.1:p.Glu204=
NM_000215.4:c.482_485delinsAGTG MANE Select	NP_000206.2:p.Glu161=