Canonical Allele Identifier: CA2583421923

Gene: JAK3

Linked Data

• gnomAD v4: 19-17829997-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830001_17830002del , CM000681.2:g.17830001_17830002del	GRCh38
NC_000019.9:g.17940810_17940811del , CM000681.1:g.17940810_17940811del	GRCh37
NC_000019.8:g.17801810_17801811del	NCBI36
NG_007273.1:g.22993_22994del , LRG_77:g.22993_22994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+109_*1764+110del	ENSP00000513006.1:n.*1764+109_*1764+110del
ENST00000696967.1:n.2384+109_2384+110del
ENST00000696968.1:n.440+109_440+110del
ENST00000696969.1:n.2164+109_2164+110del
ENST00000458235.7:c.3207+109_3207+110del MANE Select	ENSP00000391676.1:n.3207+109_3207+110del
ENST00000458235.5:c.3207+109_3207+110del	ENSP00000391676.1:n.3207+109_3207+110del
ENST00000527031.5:n.2279-4689_2279-4688del
ENST00000527670.5:c.3207+109_3207+110del	ENSP00000432511.1:n.3207+109_3207+110del
ENST00000534444.1:c.*31_*32del	ENSP00000436421.1:n.*31_*32del
NM_000215.3:c.3207+109_3207+110del , LRG_77t1:c.3207+109_3207+110del	NP_000206.2:n.3207+109_3207+110del
XM_005259896.2:c.3336+109_3336+110del	XP_005259953.1:n.3336+109_3336+110del
XM_006722745.2:c.3207+109_3207+110del	XP_006722808.1:n.3207+109_3207+110del
XM_005259896.3:c.3336+109_3336+110del	XP_005259953.1:n.3336+109_3336+110del
NM_000215.4:c.3207+109_3207+110del MANE Select	NP_000206.2:n.3207+109_3207+110del