Canonical Allele Identifier: CA306142078

Gene: JAK3

Linked Data

• dbSNP Id: rs386807459

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17844192_17844194delinsTCT , CM000681.2:g.17844192_17844194delinsTCT	GRCh38
NC_000019.9:g.17955001_17955003delinsTCT , CM000681.1:g.17955001_17955003delinsTCT	GRCh37
NC_000019.8:g.17816001_17816003delinsTCT	NCBI36
NG_007273.1:g.8798_8800delinsAGA , LRG_77:g.8798_8800delinsAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.184+40_184+42delinsAGA	ENSP00000513006.1:n.184+40_184+42delinsAGA
ENST00000458235.7:c.184+40_184+42delinsAGA MANE Select	ENSP00000391676.1:n.184+40_184+42delinsAGA
ENST00000458235.5:c.184+40_184+42delinsAGA	ENSP00000391676.1:n.184+40_184+42delinsAGA
ENST00000526008.5:n.284+40_284+42delinsAGA
ENST00000527031.5:n.274+40_274+42delinsAGA
ENST00000527670.5:c.184+40_184+42delinsAGA	ENSP00000432511.1:n.184+40_184+42delinsAGA
ENST00000528293.1:n.323+40_323+42delinsAGA
ENST00000534444.1:c.184+40_184+42delinsAGA	ENSP00000436421.1:n.184+40_184+42delinsAGA
NM_000215.3:c.184+40_184+42delinsAGA , LRG_77t1:c.184+40_184+42delinsAGA	NP_000206.2:n.184+40_184+42delinsAGA
XM_005259896.2:c.313+40_313+42delinsAGA	XP_005259953.1:n.313+40_313+42delinsAGA
XM_006722745.2:c.184+40_184+42delinsAGA	XP_006722808.1:n.184+40_184+42delinsAGA
XM_011527990.1:c.313+40_313+42delinsAGA	XP_011526292.1:n.313+40_313+42delinsAGA
XM_011527991.1:c.313+40_313+42delinsAGA	XP_011526293.1:n.313+40_313+42delinsAGA
XR_430137.2:n.323+40_323+42delinsAGA
XM_005259896.3:c.313+40_313+42delinsAGA	XP_005259953.1:n.313+40_313+42delinsAGA
XM_011527991.2:c.313+40_313+42delinsAGA	XP_011526293.1:n.313+40_313+42delinsAGA
NM_000215.4:c.184+40_184+42delinsAGA MANE Select	NP_000206.2:n.184+40_184+42delinsAGA