Canonical Allele Identifier: CA2583426335

Gene: JAK3

Linked Data

• gnomAD v4: 19-17843486-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843490del , CM000681.2:g.17843490del	GRCh38
NC_000019.9:g.17954299del , CM000681.1:g.17954299del	GRCh37
NC_000019.8:g.17815299del	NCBI36
NG_007273.1:g.9505del , LRG_77:g.9505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.313del	ENSP00000513006.1:p.Tyr105ThrfsTer?
ENST00000458235.7:c.313del MANE Select	ENSP00000391676.1:p.Tyr105ThrfsTer?
ENST00000458235.5:c.313del	ENSP00000391676.1:p.Tyr105ThrfsTer?
ENST00000526008.5:n.413del
ENST00000527031.5:n.403del
ENST00000527670.5:c.313del	ENSP00000432511.1:p.Tyr105ThrfsTer?
ENST00000528293.1:n.328del
ENST00000534444.1:c.313del	ENSP00000436421.1:p.Tyr105ThrfsTer?
NM_000215.3:c.313del , LRG_77t1:c.313del	NP_000206.2:p.Tyr105ThrfsTer?
XM_005259896.2:c.442del	XP_005259953.1:p.Tyr148ThrfsTer?
XM_006722745.2:c.313del	XP_006722808.1:p.Tyr105ThrfsTer?
XM_011527990.1:c.442del	XP_011526292.1:p.Tyr148ThrfsTer?
XM_011527991.1:c.442del	XP_011526293.1:p.Tyr148ThrfsTer?
XR_430137.2:n.452del
XM_005259896.3:c.442del	XP_005259953.1:p.Tyr148ThrfsTer?
XM_011527991.2:c.442del	XP_011526293.1:p.Tyr148ThrfsTer?
NM_000215.4:c.313del MANE Select	NP_000206.2:p.Tyr105ThrfsTer?