Canonical Allele Identifier: CA2326057933

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17844136_17844138delinsCCG , CM000681.2:g.17844136_17844138delinsCCG	GRCh38
NC_000019.9:g.17954945_17954947delinsCCG , CM000681.1:g.17954945_17954947delinsCCG	GRCh37
NC_000019.8:g.17815945_17815947delinsCCG	NCBI36
NG_007273.1:g.8854_8856delinsCGG , LRG_77:g.8854_8856delinsCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.184+96_184+98delinsCGG	ENSP00000513006.1:n.184+96_184+98delinsCGG
ENST00000458235.7:c.184+96_184+98delinsCGG MANE Select	ENSP00000391676.1:n.184+96_184+98delinsCGG
ENST00000458235.5:c.184+96_184+98delinsCGG	ENSP00000391676.1:n.184+96_184+98delinsCGG
ENST00000526008.5:n.284+96_284+98delinsCGG
ENST00000527031.5:n.274+96_274+98delinsCGG
ENST00000527670.5:c.184+96_184+98delinsCGG	ENSP00000432511.1:n.184+96_184+98delinsCGG
ENST00000528293.1:n.323+96_323+98delinsCGG
ENST00000534444.1:c.184+96_184+98delinsCGG	ENSP00000436421.1:n.184+96_184+98delinsCGG
NM_000215.3:c.184+96_184+98delinsCGG , LRG_77t1:c.184+96_184+98delinsCGG	NP_000206.2:n.184+96_184+98delinsCGG
XM_005259896.2:c.313+96_313+98delinsCGG	XP_005259953.1:n.313+96_313+98delinsCGG
XM_006722745.2:c.184+96_184+98delinsCGG	XP_006722808.1:n.184+96_184+98delinsCGG
XM_011527990.1:c.313+96_313+98delinsCGG	XP_011526292.1:n.313+96_313+98delinsCGG
XM_011527991.1:c.313+96_313+98delinsCGG	XP_011526293.1:n.313+96_313+98delinsCGG
XR_430137.2:n.323+96_323+98delinsCGG
XM_005259896.3:c.313+96_313+98delinsCGG	XP_005259953.1:n.313+96_313+98delinsCGG
XM_011527991.2:c.313+96_313+98delinsCGG	XP_011526293.1:n.313+96_313+98delinsCGG
NM_000215.4:c.184+96_184+98delinsCGG MANE Select	NP_000206.2:n.184+96_184+98delinsCGG