Canonical Allele Identifier: CA2326057931

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17844135_17844136delinsTC , CM000681.2:g.17844135_17844136delinsTC	GRCh38
NC_000019.9:g.17954944_17954945delinsTC , CM000681.1:g.17954944_17954945delinsTC	GRCh37
NC_000019.8:g.17815944_17815945delinsTC	NCBI36
NG_007273.1:g.8856_8857delinsGA , LRG_77:g.8856_8857delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.184+98_184+99delinsGA	ENSP00000513006.1:n.184+98_184+99delinsGA
ENST00000458235.7:c.184+98_184+99delinsGA MANE Select	ENSP00000391676.1:n.184+98_184+99delinsGA
ENST00000458235.5:c.184+98_184+99delinsGA	ENSP00000391676.1:n.184+98_184+99delinsGA
ENST00000526008.5:n.284+98_284+99delinsGA
ENST00000527031.5:n.274+98_274+99delinsGA
ENST00000527670.5:c.184+98_184+99delinsGA	ENSP00000432511.1:n.184+98_184+99delinsGA
ENST00000528293.1:n.323+98_323+99delinsGA
ENST00000534444.1:c.184+98_184+99delinsGA	ENSP00000436421.1:n.184+98_184+99delinsGA
NM_000215.3:c.184+98_184+99delinsGA , LRG_77t1:c.184+98_184+99delinsGA	NP_000206.2:n.184+98_184+99delinsGA
XM_005259896.2:c.313+98_313+99delinsGA	XP_005259953.1:n.313+98_313+99delinsGA
XM_006722745.2:c.184+98_184+99delinsGA	XP_006722808.1:n.184+98_184+99delinsGA
XM_011527990.1:c.313+98_313+99delinsGA	XP_011526292.1:n.313+98_313+99delinsGA
XM_011527991.1:c.313+98_313+99delinsGA	XP_011526293.1:n.313+98_313+99delinsGA
XR_430137.2:n.323+98_323+99delinsGA
XM_005259896.3:c.313+98_313+99delinsGA	XP_005259953.1:n.313+98_313+99delinsGA
XM_011527991.2:c.313+98_313+99delinsGA	XP_011526293.1:n.313+98_313+99delinsGA
NM_000215.4:c.184+98_184+99delinsGA MANE Select	NP_000206.2:n.184+98_184+99delinsGA