Canonical Allele Identifier: CA2326051176

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829954_17829958delinsCAGTG , CM000681.2:g.17829954_17829958delinsCAGTG	GRCh38
NC_000019.9:g.17940763_17940767delinsCAGTG , CM000681.1:g.17940763_17940767delinsCAGTG	GRCh37
NC_000019.8:g.17801763_17801767delinsCAGTG	NCBI36
NG_007273.1:g.23034_23038delinsCACTG , LRG_77:g.23034_23038delinsCACTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.*1764+150_*1764+154delinsCACTG	ENSP00000513006.1:n.*1764+150_*1764+154de...
ENST00000696967.1:n.2384+150_2384+154delinsCACTG
ENST00000696968.1:n.440+150_440+154delinsCACTG
ENST00000696969.1:n.2164+150_2164+154delinsCACTG
ENST00000458235.7:c.3207+150_3207+154delinsCACTG MANE Select	ENSP00000391676.1:n.3207+150_3207+154deli...
ENST00000458235.5:c.3207+150_3207+154delinsCACTG	ENSP00000391676.1:n.3207+150_3207+154deli...
ENST00000527031.5:n.2279-4648_2279-4644delinsCACTG
ENST00000527670.5:c.3207+150_3207+154delinsCACTG	ENSP00000432511.1:n.3207+150_3207+154deli...
ENST00000534444.1:c.*72_*76delinsCACTG	ENSP00000436421.1:n.*72_*76delinsCACTG
NM_000215.3:c.3207+150_3207+154delinsCACTG , LRG_77t1:c.3207+150_3207+154delinsCACTG	NP_000206.2:n.3207+150_3207+154delinsCACT...
XM_005259896.2:c.3336+150_3336+154delinsCACTG	XP_005259953.1:n.3336+150_3336+154delinsC...
XM_006722745.2:c.3207+150_3207+154delinsCACTG	XP_006722808.1:n.3207+150_3207+154delinsC...
XM_005259896.3:c.3336+150_3336+154delinsCACTG	XP_005259953.1:n.3336+150_3336+154delinsC...
NM_000215.4:c.3207+150_3207+154delinsCACTG MANE Select	NP_000206.2:n.3207+150_3207+154delinsCACT...