Canonical Allele Identifier: CA2583426568

Gene: JAK3

Linked Data

• gnomAD v4: 19-17844030-C-CCGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17844032_17844034dup , CM000681.2:g.17844032_17844034dup	GRCh38
NC_000019.9:g.17954841_17954843dup , CM000681.1:g.17954841_17954843dup	GRCh37
NC_000019.8:g.17815841_17815843dup	NCBI36
NG_007273.1:g.8959_8961dup , LRG_77:g.8959_8961dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.185-133_185-131dup	ENSP00000513006.1:n.185-133_185-131dup
ENST00000458235.7:c.185-133_185-131dup MANE Select	ENSP00000391676.1:n.185-133_185-131dup
ENST00000458235.5:c.185-133_185-131dup	ENSP00000391676.1:n.185-133_185-131dup
ENST00000526008.5:n.285-133_285-131dup
ENST00000527031.5:n.275-133_275-131dup
ENST00000527670.5:c.185-133_185-131dup	ENSP00000432511.1:n.185-133_185-131dup
ENST00000528293.1:n.323+201_323+203dup
ENST00000534444.1:c.185-133_185-131dup	ENSP00000436421.1:n.185-133_185-131dup
NM_000215.3:c.185-133_185-131dup , LRG_77t1:c.185-133_185-131dup	NP_000206.2:n.185-133_185-131dup
XM_005259896.2:c.314-133_314-131dup	XP_005259953.1:n.314-133_314-131dup
XM_006722745.2:c.185-133_185-131dup	XP_006722808.1:n.185-133_185-131dup
XM_011527990.1:c.314-133_314-131dup	XP_011526292.1:n.314-133_314-131dup
XM_011527991.1:c.314-133_314-131dup	XP_011526293.1:n.314-133_314-131dup
XR_430137.2:n.324-133_324-131dup
XM_005259896.3:c.314-133_314-131dup	XP_005259953.1:n.314-133_314-131dup
XM_011527991.2:c.314-133_314-131dup	XP_011526293.1:n.314-133_314-131dup
NM_000215.4:c.185-133_185-131dup MANE Select	NP_000206.2:n.185-133_185-131dup