Canonical Allele Identifier: CA2695228503

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843152del , CM000681.2:g.17843152del	GRCh38
NC_000019.9:g.17953961del , CM000681.1:g.17953961del	GRCh37
NC_000019.8:g.17814961del	NCBI36
NG_007273.1:g.9840del , LRG_77:g.9840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.441del	ENSP00000513006.1:p.Ser147ArgfsTer?
ENST00000458235.7:c.441del MANE Select	ENSP00000391676.1:p.Ser147ArgfsTer?
ENST00000458235.5:c.441del	ENSP00000391676.1:p.Ser147ArgfsTer?
ENST00000526008.5:n.541del
ENST00000527031.5:n.531del
ENST00000527670.5:c.441del	ENSP00000432511.1:p.Ser147ArgfsTer?
ENST00000528293.1:n.456del
ENST00000534444.1:c.441del	ENSP00000436421.1:p.Ser147ArgfsTer?
NM_000215.3:c.441del , LRG_77t1:c.441del	NP_000206.2:p.Ser147ArgfsTer?
XM_005259896.2:c.570del	XP_005259953.1:p.Ser190ArgfsTer?
XM_006722745.2:c.441del	XP_006722808.1:p.Ser147ArgfsTer?
XM_011527990.1:c.570del	XP_011526292.1:p.Ser190ArgfsTer?
XM_011527991.1:c.570del	XP_011526293.1:p.Ser190ArgfsTer?
XR_430137.2:n.580del
XM_005259896.3:c.570del	XP_005259953.1:p.Ser190ArgfsTer?
XM_011527991.2:c.570del	XP_011526293.1:p.Ser190ArgfsTer?
NM_000215.4:c.441del MANE Select	NP_000206.2:p.Ser147ArgfsTer?