Canonical Allele Identifier: CA2583421719

Gene: JAK3

Linked Data

• gnomAD v4: 19-17829771-G-GAAAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829774_17829775insGAAAA , CM000681.2:g.17829774_17829775insGAAAA	GRCh38
NC_000019.9:g.17940583_17940584insGAAAA , CM000681.1:g.17940583_17940584insGAAAA	GRCh37
NC_000019.8:g.17801583_17801584insGAAAA	NCBI36
NG_007273.1:g.23220_23221insTCTTT , LRG_77:g.23220_23221insTCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+336_*1764+337insTCTTT	ENSP00000513006.1:n.*1764+336_*1764+337insTCTTT
ENST00000696967.1:n.2384+336_2384+337insTCTTT
ENST00000696968.1:n.440+336_440+337insTCTTT
ENST00000696969.1:n.2164+336_2164+337insTCTTT
ENST00000458235.7:c.3207+336_3207+337insTCTTT MANE Select	ENSP00000391676.1:n.3207+336_3207+337insTCTTT
ENST00000458235.5:c.3207+336_3207+337insTCTTT	ENSP00000391676.1:n.3207+336_3207+337insTCTTT
ENST00000527031.5:n.2279-4462_2279-4461insTCTTT
ENST00000527670.5:c.3207+336_3207+337insTCTTT	ENSP00000432511.1:n.3207+336_3207+337insTCTTT
NM_000215.3:c.3207+336_3207+337insTCTTT , LRG_77t1:c.3207+336_3207+337insTCTTT	NP_000206.2:n.3207+336_3207+337insTCTTT
XM_005259896.2:c.3336+336_3336+337insTCTTT	XP_005259953.1:n.3336+336_3336+337insTCTTT
XM_006722745.2:c.3207+336_3207+337insTCTTT	XP_006722808.1:n.3207+336_3207+337insTCTTT
XM_005259896.3:c.3336+336_3336+337insTCTTT	XP_005259953.1:n.3336+336_3336+337insTCTTT
NM_000215.4:c.3207+336_3207+337insTCTTT MANE Select	NP_000206.2:n.3207+336_3207+337insTCTTT