Canonical Allele Identifier: CA2326051175

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829953_17829957delinsACAGT , CM000681.2:g.17829953_17829957delinsACAGT	GRCh38
NC_000019.9:g.17940762_17940766delinsACAGT , CM000681.1:g.17940762_17940766delinsACAGT	GRCh37
NC_000019.8:g.17801762_17801766delinsACAGT	NCBI36
NG_007273.1:g.23035_23039delinsACTGT , LRG_77:g.23035_23039delinsACTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+151_*1764+155delinsACTGT	ENSP00000513006.1:n.*1764+151_*1764+155delinsACTGT
ENST00000696967.1:n.2384+151_2384+155delinsACTGT
ENST00000696968.1:n.440+151_440+155delinsACTGT
ENST00000696969.1:n.2164+151_2164+155delinsACTGT
ENST00000458235.7:c.3207+151_3207+155delinsACTGT MANE Select	ENSP00000391676.1:n.3207+151_3207+155delinsACTGT
ENST00000458235.5:c.3207+151_3207+155delinsACTGT	ENSP00000391676.1:n.3207+151_3207+155delinsACTGT
ENST00000527031.5:n.2279-4647_2279-4643delinsACTGT
ENST00000527670.5:c.3207+151_3207+155delinsACTGT	ENSP00000432511.1:n.3207+151_3207+155delinsACTGT
ENST00000534444.1:c.*73_*77delinsACTGT	ENSP00000436421.1:n.*73_*77delinsACTGT
NM_000215.3:c.3207+151_3207+155delinsACTGT , LRG_77t1:c.3207+151_3207+155delinsACTGT	NP_000206.2:n.3207+151_3207+155delinsACTGT
XM_005259896.2:c.3336+151_3336+155delinsACTGT	XP_005259953.1:n.3336+151_3336+155delinsACTGT
XM_006722745.2:c.3207+151_3207+155delinsACTGT	XP_006722808.1:n.3207+151_3207+155delinsACTGT
XM_005259896.3:c.3336+151_3336+155delinsACTGT	XP_005259953.1:n.3336+151_3336+155delinsACTGT
NM_000215.4:c.3207+151_3207+155delinsACTGT MANE Select	NP_000206.2:n.3207+151_3207+155delinsACTGT