Canonical Allele Identifier: CA2583426633

Gene: JAK3

Linked Data

• gnomAD v4: 19-17844125-A-AAGCCCCAGCTCCGATGCTGACTTCTGCAGGCAACTATTCCAGCTTCCAATCTTGGCCCCACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17844133_17844195dup , CM000681.2:g.17844133_17844195dup	GRCh38
NC_000019.9:g.17954942_17955004dup , CM000681.1:g.17954942_17955004dup	GRCh37
NC_000019.8:g.17815942_17816004dup	NCBI36
NG_007273.1:g.8804_8866dup , LRG_77:g.8804_8866dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.184+46_184+108dup	ENSP00000513006.1:n.184+46_184+108dup
ENST00000458235.7:c.184+46_184+108dup MANE Select	ENSP00000391676.1:n.184+46_184+108dup
ENST00000458235.5:c.184+46_184+108dup	ENSP00000391676.1:n.184+46_184+108dup
ENST00000526008.5:n.284+46_284+108dup
ENST00000527031.5:n.274+46_274+108dup
ENST00000527670.5:c.184+46_184+108dup	ENSP00000432511.1:n.184+46_184+108dup
ENST00000528293.1:n.323+46_323+108dup
ENST00000534444.1:c.184+46_184+108dup	ENSP00000436421.1:n.184+46_184+108dup
NM_000215.3:c.184+46_184+108dup , LRG_77t1:c.184+46_184+108dup	NP_000206.2:n.184+46_184+108dup
XM_005259896.2:c.313+46_313+108dup	XP_005259953.1:n.313+46_313+108dup
XM_006722745.2:c.184+46_184+108dup	XP_006722808.1:n.184+46_184+108dup
XM_011527990.1:c.313+46_313+108dup	XP_011526292.1:n.313+46_313+108dup
XM_011527991.1:c.313+46_313+108dup	XP_011526293.1:n.313+46_313+108dup
XR_430137.2:n.323+46_323+108dup
XM_005259896.3:c.313+46_313+108dup	XP_005259953.1:n.313+46_313+108dup
XM_011527991.2:c.313+46_313+108dup	XP_011526293.1:n.313+46_313+108dup
NM_000215.4:c.184+46_184+108dup MANE Select	NP_000206.2:n.184+46_184+108dup