Canonical Allele Identifier: CA783873408

Gene: JAK3

Linked Data

• dbSNP Id: rs1391277846
• gnomAD v3: 19-17829651-TAG-T
• gnomAD v4: 19-17829651-TAG-T
• MyVariant Identifiers: chr19:g.17940461_17940462del (hg19) ; chr19:g.17829652_17829653del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829655_17829656del , CM000681.2:g.17829655_17829656del	GRCh38
NC_000019.9:g.17940464_17940465del , CM000681.1:g.17940464_17940465del	GRCh37
NC_000019.8:g.17801464_17801465del	NCBI36
NG_007273.1:g.23339_23340del , LRG_77:g.23339_23340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+455_*1764+456del	ENSP00000513006.1:n.*1764+455_*1764+456del
ENST00000696967.1:n.2384+455_2384+456del
ENST00000696968.1:n.440+455_440+456del
ENST00000696969.1:n.2164+455_2164+456del
ENST00000458235.7:c.3207+455_3207+456del MANE Select	ENSP00000391676.1:n.3207+455_3207+456del
ENST00000458235.5:c.3207+455_3207+456del	ENSP00000391676.1:n.3207+455_3207+456del
ENST00000527031.5:n.2279-4343_2279-4342del
ENST00000527670.5:c.3207+455_3207+456del	ENSP00000432511.1:n.3207+455_3207+456del
NM_000215.3:c.3207+455_3207+456del , LRG_77t1:c.3207+455_3207+456del	NP_000206.2:n.3207+455_3207+456del
XM_005259896.2:c.3336+455_3336+456del	XP_005259953.1:n.3336+455_3336+456del
XM_006722745.2:c.3207+455_3207+456del	XP_006722808.1:n.3207+455_3207+456del
XM_005259896.3:c.3336+455_3336+456del	XP_005259953.1:n.3336+455_3336+456del
NM_000215.4:c.3207+455_3207+456del MANE Select	NP_000206.2:n.3207+455_3207+456del