Canonical Allele Identifier: CA2583423440

Gene: JAK3

Linked Data

• gnomAD v4: 19-17834645-CACTGTTGAATCAGCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834646_17834661del , CM000681.2:g.17834646_17834661del	GRCh38
NC_000019.9:g.17945455_17945470del , CM000681.1:g.17945455_17945470del	GRCh37
NC_000019.8:g.17806455_17806470del	NCBI36
NG_007273.1:g.18331_18346del , LRG_77:g.18331_18346del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*817_*832del	ENSP00000513006.1:n.*817_*832del
ENST00000696967.1:n.1437_1452del
ENST00000696970.1:n.915_930del
ENST00000458235.7:c.2260_2275del MANE Select	ENSP00000391676.1:p.Leu754AlafsTer?
ENST00000458235.5:c.2260_2275del	ENSP00000391676.1:p.Leu754AlafsTer?
ENST00000527031.5:n.2278+2066_2278+2081del
ENST00000527670.5:c.2260_2275del	ENSP00000432511.1:p.Leu754AlafsTer?
ENST00000534444.1:c.2260_2275del	ENSP00000436421.1:p.Leu754AlafsTer?
NM_000215.3:c.2260_2275del , LRG_77t1:c.2260_2275del	NP_000206.2:p.Leu754AlafsTer?
XM_005259896.2:c.2389_2404del	XP_005259953.1:p.Leu797AlafsTer?
XM_006722745.2:c.2260_2275del	XP_006722808.1:p.Leu754AlafsTer?
XM_011527990.1:c.2389_2404del	XP_011526292.1:p.Leu797AlafsTer?
XR_430137.2:n.2399_2414del
XM_005259896.3:c.2389_2404del	XP_005259953.1:p.Leu797AlafsTer?
NM_000215.4:c.2260_2275del MANE Select	NP_000206.2:p.Leu754AlafsTer?