Canonical Allele Identifier: CA632135868

Gene: JAK3

Linked Data

• dbSNP Id: rs1167203744
• gnomAD v2: 19-17945821-A-AT
• gnomAD v4: 19-17835012-A-AT
• MyVariant Identifiers: chr19:g.17945821_17945822insT (hg19) ; chr19:g.17835012_17835013insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17835013dup , CM000681.2:g.17835013dup	GRCh38
NC_000019.9:g.17945822dup , CM000681.1:g.17945822dup	GRCh37
NC_000019.8:g.17806822dup	NCBI36
NG_007273.1:g.17979dup , LRG_77:g.17979dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*605-10dup	ENSP00000513006.1:n.*605-10dup
ENST00000696967.1:n.1225-10dup
ENST00000696970.1:n.703-10dup
ENST00000458235.7:c.2048-10dup MANE Select	ENSP00000391676.1:n.2048-10dup
ENST00000458235.5:c.2048-10dup	ENSP00000391676.1:n.2048-10dup
ENST00000527031.5:n.2278+1714dup
ENST00000527670.5:c.2048-10dup	ENSP00000432511.1:n.2048-10dup
ENST00000534444.1:c.2048-10dup	ENSP00000436421.1:n.2048-10dup
NM_000215.3:c.2048-10dup , LRG_77t1:c.2048-10dup	NP_000206.2:n.2048-10dup
XM_005259896.2:c.2177-10dup	XP_005259953.1:n.2177-10dup
XM_006722745.2:c.2048-10dup	XP_006722808.1:n.2048-10dup
XM_011527990.1:c.2177-10dup	XP_011526292.1:n.2177-10dup
XR_430137.2:n.2187-10dup
XM_005259896.3:c.2177-10dup	XP_005259953.1:n.2177-10dup
NM_000215.4:c.2048-10dup MANE Select	NP_000206.2:n.2048-10dup