Canonical Allele Identifier: CA2813814138

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834721del , CM000681.2:g.17834721del	GRCh38
NC_000019.9:g.17945530del , CM000681.1:g.17945530del	GRCh37
NC_000019.8:g.17806530del	NCBI36
NG_007273.1:g.18273del , LRG_77:g.18273del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*759del	ENSP00000513006.1:n.*759del
ENST00000696967.1:n.1379del
ENST00000696970.1:n.857del
ENST00000458235.7:c.2202del MANE Select	ENSP00000391676.1:p.Lys734AsnfsTer22
ENST00000458235.5:c.2202del	ENSP00000391676.1:p.Lys734AsnfsTer22
ENST00000527031.5:n.2278+2008del
ENST00000527670.5:c.2202del	ENSP00000432511.1:p.Lys734AsnfsTer22
ENST00000534444.1:c.2202del	ENSP00000436421.1:p.Lys734AsnfsTer22
NM_000215.3:c.2202del , LRG_77t1:c.2202del	NP_000206.2:p.Lys734AsnfsTer22
XM_005259896.2:c.2331del	XP_005259953.1:p.Lys777AsnfsTer22
XM_006722745.2:c.2202del	XP_006722808.1:p.Lys734AsnfsTer22
XM_011527990.1:c.2331del	XP_011526292.1:p.Lys777AsnfsTer22
XR_430137.2:n.2341del
XM_005259896.3:c.2331del	XP_005259953.1:p.Lys777AsnfsTer22
NM_000215.4:c.2202del MANE Select	NP_000206.2:p.Lys734AsnfsTer22