Canonical Allele Identifier: CA2583421983

Gene: JAK3

Linked Data

• gnomAD v4: 19-17830179-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830183del , CM000681.2:g.17830183del	GRCh38
NC_000019.9:g.17940992del , CM000681.1:g.17940992del	GRCh37
NC_000019.8:g.17801992del	NCBI36
NG_007273.1:g.22812del , LRG_77:g.22812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1692del	ENSP00000513006.1:n.*1692del
ENST00000696967.1:n.2312del
ENST00000696968.1:n.368del
ENST00000696969.1:n.2092del
ENST00000458235.7:c.3135del MANE Select	ENSP00000391676.1:p.Ala1046ProfsTer29
ENST00000458235.5:c.3135del	ENSP00000391676.1:p.Ala1046ProfsTer29
ENST00000527031.5:n.2279-4870del
ENST00000527670.5:c.3135del	ENSP00000432511.1:p.Ala1046ProfsTer29
ENST00000534444.1:c.3135del	ENSP00000436421.1:p.Ala1046ProfsTer25
NM_000215.3:c.3135del , LRG_77t1:c.3135del	NP_000206.2:p.Ala1046ProfsTer29
XM_005259896.2:c.3264del	XP_005259953.1:p.Ala1089ProfsTer29
XM_006722745.2:c.3135del	XP_006722808.1:p.Ala1046ProfsTer29
XM_005259896.3:c.3264del	XP_005259953.1:p.Ala1089ProfsTer29
NM_000215.4:c.3135del MANE Select	NP_000206.2:p.Ala1046ProfsTer29