Canonical Allele Identifier: CA2583421725

Gene: JAK3

Linked Data

• gnomAD v4: 19-17829774-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829774_17829775insG , CM000681.2:g.17829774_17829775insG	GRCh38
NC_000019.9:g.17940583_17940584insG , CM000681.1:g.17940583_17940584insG	GRCh37
NC_000019.8:g.17801583_17801584insG	NCBI36
NG_007273.1:g.23217_23218insC , LRG_77:g.23217_23218insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+333_*1764+334insC	ENSP00000513006.1:n.*1764+333_*1764+334insC
ENST00000696967.1:n.2384+333_2384+334insC
ENST00000696968.1:n.440+333_440+334insC
ENST00000696969.1:n.2164+333_2164+334insC
ENST00000458235.7:c.3207+333_3207+334insC MANE Select	ENSP00000391676.1:n.3207+333_3207+334insC
ENST00000458235.5:c.3207+333_3207+334insC	ENSP00000391676.1:n.3207+333_3207+334insC
ENST00000527031.5:n.2279-4465_2279-4464insC
ENST00000527670.5:c.3207+333_3207+334insC	ENSP00000432511.1:n.3207+333_3207+334insC
NM_000215.3:c.3207+333_3207+334insC , LRG_77t1:c.3207+333_3207+334insC	NP_000206.2:n.3207+333_3207+334insC
XM_005259896.2:c.3336+333_3336+334insC	XP_005259953.1:n.3336+333_3336+334insC
XM_006722745.2:c.3207+333_3207+334insC	XP_006722808.1:n.3207+333_3207+334insC
XM_005259896.3:c.3336+333_3336+334insC	XP_005259953.1:n.3336+333_3336+334insC
NM_000215.4:c.3207+333_3207+334insC MANE Select	NP_000206.2:n.3207+333_3207+334insC