Canonical Allele Identifier: CA2326051076

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829770_17829771delinsAG , CM000681.2:g.17829770_17829771delinsAG	GRCh38
NC_000019.9:g.17940579_17940580delinsAG , CM000681.1:g.17940579_17940580delinsAG	GRCh37
NC_000019.8:g.17801579_17801580delinsAG	NCBI36
NG_007273.1:g.23221_23222delinsCT , LRG_77:g.23221_23222delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+337_*1764+338delinsCT	ENSP00000513006.1:n.*1764+337_*1764+338delinsCT
ENST00000696967.1:n.2384+337_2384+338delinsCT
ENST00000696968.1:n.440+337_440+338delinsCT
ENST00000696969.1:n.2164+337_2164+338delinsCT
ENST00000458235.7:c.3207+337_3207+338delinsCT MANE Select	ENSP00000391676.1:n.3207+337_3207+338delinsCT
ENST00000458235.5:c.3207+337_3207+338delinsCT	ENSP00000391676.1:n.3207+337_3207+338delinsCT
ENST00000527031.5:n.2279-4461_2279-4460delinsCT
ENST00000527670.5:c.3207+337_3207+338delinsCT	ENSP00000432511.1:n.3207+337_3207+338delinsCT
NM_000215.3:c.3207+337_3207+338delinsCT , LRG_77t1:c.3207+337_3207+338delinsCT	NP_000206.2:n.3207+337_3207+338delinsCT
XM_005259896.2:c.3336+337_3336+338delinsCT	XP_005259953.1:n.3336+337_3336+338delinsCT
XM_006722745.2:c.3207+337_3207+338delinsCT	XP_006722808.1:n.3207+337_3207+338delinsCT
XM_005259896.3:c.3336+337_3336+338delinsCT	XP_005259953.1:n.3336+337_3336+338delinsCT
NM_000215.4:c.3207+337_3207+338delinsCT MANE Select	NP_000206.2:n.3207+337_3207+338delinsCT