Canonical Allele Identifier: CA2326051234

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830055_17830056delinsAC , CM000681.2:g.17830055_17830056delinsAC	GRCh38
NC_000019.9:g.17940864_17940865delinsAC , CM000681.1:g.17940864_17940865delinsAC	GRCh37
NC_000019.8:g.17801864_17801865delinsAC	NCBI36
NG_007273.1:g.22936_22937delinsGT , LRG_77:g.22936_22937delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+52_*1764+53delinsGT	ENSP00000513006.1:n.*1764+52_*1764+53delinsGT
ENST00000696967.1:n.2384+52_2384+53delinsGT
ENST00000696968.1:n.440+52_440+53delinsGT
ENST00000696969.1:n.2164+52_2164+53delinsGT
ENST00000458235.7:c.3207+52_3207+53delinsGT MANE Select	ENSP00000391676.1:n.3207+52_3207+53delinsGT
ENST00000458235.5:c.3207+52_3207+53delinsGT	ENSP00000391676.1:n.3207+52_3207+53delinsGT
ENST00000527031.5:n.2279-4746_2279-4745delinsGT
ENST00000527670.5:c.3207+52_3207+53delinsGT	ENSP00000432511.1:n.3207+52_3207+53delinsGT
ENST00000534444.1:c.3259_3260delinsGT	ENSP00000436421.1:p.Val1087=
NM_000215.3:c.3207+52_3207+53delinsGT , LRG_77t1:c.3207+52_3207+53delinsGT	NP_000206.2:n.3207+52_3207+53delinsGT
XM_005259896.2:c.3336+52_3336+53delinsGT	XP_005259953.1:n.3336+52_3336+53delinsGT
XM_006722745.2:c.3207+52_3207+53delinsGT	XP_006722808.1:n.3207+52_3207+53delinsGT
XM_005259896.3:c.3336+52_3336+53delinsGT	XP_005259953.1:n.3336+52_3336+53delinsGT
NM_000215.4:c.3207+52_3207+53delinsGT MANE Select	NP_000206.2:n.3207+52_3207+53delinsGT