Canonical Allele Identifier: CA2326051182

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829957_17829959delinsTGA , CM000681.2:g.17829957_17829959delinsTGA	GRCh38
NC_000019.9:g.17940766_17940768delinsTGA , CM000681.1:g.17940766_17940768delinsTGA	GRCh37
NC_000019.8:g.17801766_17801768delinsTGA	NCBI36
NG_007273.1:g.23033_23035delinsTCA , LRG_77:g.23033_23035delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+149_*1764+151delinsTCA	ENSP00000513006.1:n.*1764+149_*1764+151delinsTCA
ENST00000696967.1:n.2384+149_2384+151delinsTCA
ENST00000696968.1:n.440+149_440+151delinsTCA
ENST00000696969.1:n.2164+149_2164+151delinsTCA
ENST00000458235.7:c.3207+149_3207+151delinsTCA MANE Select	ENSP00000391676.1:n.3207+149_3207+151delinsTCA
ENST00000458235.5:c.3207+149_3207+151delinsTCA	ENSP00000391676.1:n.3207+149_3207+151delinsTCA
ENST00000527031.5:n.2279-4649_2279-4647delinsTCA
ENST00000527670.5:c.3207+149_3207+151delinsTCA	ENSP00000432511.1:n.3207+149_3207+151delinsTCA
ENST00000534444.1:c.*71_*73delinsTCA	ENSP00000436421.1:n.*71_*73delinsTCA
NM_000215.3:c.3207+149_3207+151delinsTCA , LRG_77t1:c.3207+149_3207+151delinsTCA	NP_000206.2:n.3207+149_3207+151delinsTCA
XM_005259896.2:c.3336+149_3336+151delinsTCA	XP_005259953.1:n.3336+149_3336+151delinsTCA
XM_006722745.2:c.3207+149_3207+151delinsTCA	XP_006722808.1:n.3207+149_3207+151delinsTCA
XM_005259896.3:c.3336+149_3336+151delinsTCA	XP_005259953.1:n.3336+149_3336+151delinsTCA
NM_000215.4:c.3207+149_3207+151delinsTCA MANE Select	NP_000206.2:n.3207+149_3207+151delinsTCA