Canonical Allele Identifier: CA2583424135

Gene: JAK3

Linked Data

• gnomAD v4: 19-17837150-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17837151del , CM000681.2:g.17837151del	GRCh38
NC_000019.9:g.17947960del , CM000681.1:g.17947960del	GRCh37
NC_000019.8:g.17808960del	NCBI36
NG_007273.1:g.15841del , LRG_77:g.15841del

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.*321del	ENSP00000513006.1:n.*321del
ENST00000696967.1:n.941del
ENST00000696970.1:n.419del
ENST00000458235.7:c.1764del MANE Select	ENSP00000391676.1:p.His588GlnfsTer21
ENST00000458235.5:c.1764del	ENSP00000391676.1:p.His588GlnfsTer21
ENST00000527031.5:n.1854del
ENST00000527670.5:c.1764del	ENSP00000432511.1:p.His588GlnfsTer21
ENST00000534444.1:c.1764del	ENSP00000436421.1:p.His588GlnfsTer21
NM_000215.3:c.1764del , LRG_77t1:c.1764del	NP_000206.2:p.His588GlnfsTer21
XM_005259896.2:c.1893del	XP_005259953.1:p.His631GlnfsTer21
XM_006722745.2:c.1764del	XP_006722808.1:p.His588GlnfsTer21
XM_011527990.1:c.1893del	XP_011526292.1:p.His631GlnfsTer21
XM_011527991.1:c.1893del	XP_011526293.1:p.His631GlnfsTer?
XR_430137.2:n.1903del
XM_005259896.3:c.1893del	XP_005259953.1:p.His631GlnfsTer21
XM_011527991.2:c.1893del	XP_011526293.1:p.His631GlnfsTer?
NM_000215.4:c.1764del MANE Select	NP_000206.2:p.His588GlnfsTer21