Canonical Allele Identifier: CA2326057496

Gene: JAK3

Linked Data

• dbSNP Id: rs2094244094

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843109_17843111del , CM000681.2:g.17843109_17843111del	GRCh38
NC_000019.9:g.17953918_17953920del , CM000681.1:g.17953918_17953920del	GRCh37
NC_000019.8:g.17814918_17814920del	NCBI36
NG_007273.1:g.9881_9883del , LRG_77:g.9881_9883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.482_484del	ENSP00000513006.1:p.Glu161_Cys162delinsGly
ENST00000458235.7:c.482_484del MANE Select	ENSP00000391676.1:p.Glu161_Cys162delinsGly
ENST00000458235.5:c.482_484del	ENSP00000391676.1:p.Glu161_Cys162delinsGly
ENST00000526008.5:n.582_584del
ENST00000527031.5:n.572_574del
ENST00000527670.5:c.482_484del	ENSP00000432511.1:p.Glu161_Cys162delinsGly
ENST00000528293.1:n.497_499del
ENST00000534444.1:c.482_484del	ENSP00000436421.1:p.Glu161_Cys162delinsGly
NM_000215.3:c.482_484del , LRG_77t1:c.482_484del	NP_000206.2:p.Glu161_Cys162delinsGly
XM_005259896.2:c.611_613del	XP_005259953.1:p.Glu204_Cys205delinsGly
XM_006722745.2:c.482_484del	XP_006722808.1:p.Glu161_Cys162delinsGly
XM_011527990.1:c.611_613del	XP_011526292.1:p.Glu204_Cys205delinsGly
XM_011527991.1:c.611_613del	XP_011526293.1:p.Glu204_Cys205delinsGly
XR_430137.2:n.621_623del
XM_005259896.3:c.611_613del	XP_005259953.1:p.Glu204_Cys205delinsGly
XM_011527991.2:c.611_613del	XP_011526293.1:p.Glu204_Cys205delinsGly
NM_000215.4:c.482_484del MANE Select	NP_000206.2:p.Glu161_Cys162delinsGly