Canonical Allele Identifier: CA2326051177

Gene: JAK3

Linked Data

• dbSNP Id: rs2094210688

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829954_17829957del , CM000681.2:g.17829954_17829957del	GRCh38
NC_000019.9:g.17940763_17940766del , CM000681.1:g.17940763_17940766del	GRCh37
NC_000019.8:g.17801763_17801766del	NCBI36
NG_007273.1:g.23035_23038del , LRG_77:g.23035_23038del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+151_*1764+154del	ENSP00000513006.1:n.*1764+151_*1764+154del
ENST00000696967.1:n.2384+151_2384+154del
ENST00000696968.1:n.440+151_440+154del
ENST00000696969.1:n.2164+151_2164+154del
ENST00000458235.7:c.3207+151_3207+154del MANE Select	ENSP00000391676.1:n.3207+151_3207+154del
ENST00000458235.5:c.3207+151_3207+154del	ENSP00000391676.1:n.3207+151_3207+154del
ENST00000527031.5:n.2279-4647_2279-4644del
ENST00000527670.5:c.3207+151_3207+154del	ENSP00000432511.1:n.3207+151_3207+154del
ENST00000534444.1:c.*73_*76del	ENSP00000436421.1:n.*73_*76del
NM_000215.3:c.3207+151_3207+154del , LRG_77t1:c.3207+151_3207+154del	NP_000206.2:n.3207+151_3207+154del
XM_005259896.2:c.3336+151_3336+154del	XP_005259953.1:n.3336+151_3336+154del
XM_006722745.2:c.3207+151_3207+154del	XP_006722808.1:n.3207+151_3207+154del
XM_005259896.3:c.3336+151_3336+154del	XP_005259953.1:n.3336+151_3336+154del
NM_000215.4:c.3207+151_3207+154del MANE Select	NP_000206.2:n.3207+151_3207+154del