Canonical Allele Identifier: CA2583423466

Gene: JAK3

Linked Data

• gnomAD v4: 19-17834984-G-GGGGATC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834985_17834990dup , CM000681.2:g.17834985_17834990dup	GRCh38
NC_000019.9:g.17945794_17945799dup , CM000681.1:g.17945794_17945799dup	GRCh37
NC_000019.8:g.17806794_17806799dup	NCBI36
NG_007273.1:g.18002_18007dup , LRG_77:g.18002_18007dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*618_*623dup	ENSP00000513006.1:n.*618_*623dup
ENST00000696967.1:n.1238_1243dup
ENST00000696970.1:n.716_721dup
ENST00000458235.7:c.2061_2066dup MANE Select	ENSP00000391676.1:p.Pro689_Trp690insIlePro
ENST00000458235.5:c.2061_2066dup	ENSP00000391676.1:p.Pro689_Trp690insIlePro
ENST00000527031.5:n.2278+1737_2278+1742dup
ENST00000527670.5:c.2061_2066dup	ENSP00000432511.1:p.Pro689_Trp690insIlePro
ENST00000534444.1:c.2061_2066dup	ENSP00000436421.1:p.Pro689_Trp690insIlePro
NM_000215.3:c.2061_2066dup , LRG_77t1:c.2061_2066dup	NP_000206.2:p.Pro689_Trp690insIlePro
XM_005259896.2:c.2190_2195dup	XP_005259953.1:p.Pro732_Trp733insIlePro
XM_006722745.2:c.2061_2066dup	XP_006722808.1:p.Pro689_Trp690insIlePro
XM_011527990.1:c.2190_2195dup	XP_011526292.1:p.Pro732_Trp733insIlePro
XR_430137.2:n.2200_2205dup
XM_005259896.3:c.2190_2195dup	XP_005259953.1:p.Pro732_Trp733insIlePro
NM_000215.4:c.2061_2066dup MANE Select	NP_000206.2:p.Pro689_Trp690insIlePro