Canonical Allele Identifier: CA2735876201

Gene: JAK3

Linked Data

• dbSNP Id: rs2147681510

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834626del , CM000681.2:g.17834626del	GRCh38
NC_000019.9:g.17945435del , CM000681.1:g.17945435del	GRCh37
NC_000019.8:g.17806435del	NCBI36
NG_007273.1:g.18367del , LRG_77:g.18367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*853del	ENSP00000513006.1:n.*853del
ENST00000696967.1:n.1473del
ENST00000696970.1:n.951del
ENST00000458235.7:c.2296del MANE Select	ENSP00000391676.1:p.Gln766ArgfsTer?
ENST00000458235.5:c.2296del	ENSP00000391676.1:p.Gln766ArgfsTer?
ENST00000527031.5:n.2278+2102del
ENST00000527670.5:c.2296del	ENSP00000432511.1:p.Gln766ArgfsTer?
ENST00000534444.1:c.2296del	ENSP00000436421.1:p.Gln766ArgfsTer?
NM_000215.3:c.2296del , LRG_77t1:c.2296del	NP_000206.2:p.Gln766ArgfsTer?
XM_005259896.2:c.2425del	XP_005259953.1:p.Gln809ArgfsTer?
XM_006722745.2:c.2296del	XP_006722808.1:p.Gln766ArgfsTer?
XM_011527990.1:c.2425del	XP_011526292.1:p.Gln809ArgfsTer?
XR_430137.2:n.2435del
XM_005259896.3:c.2425del	XP_005259953.1:p.Gln809ArgfsTer?
NM_000215.4:c.2296del MANE Select	NP_000206.2:p.Gln766ArgfsTer?