Canonical Allele Identifier: CA2583421723

Gene: JAK3

Linked Data

• gnomAD v4: 19-17829772-A-AAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829774_17829775insGAA , CM000681.2:g.17829774_17829775insGAA	GRCh38
NC_000019.9:g.17940583_17940584insGAA , CM000681.1:g.17940583_17940584insGAA	GRCh37
NC_000019.8:g.17801583_17801584insGAA	NCBI36
NG_007273.1:g.23219_23220insCTT , LRG_77:g.23219_23220insCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+335_*1764+336insCTT	ENSP00000513006.1:n.*1764+335_*1764+336insCTT
ENST00000696967.1:n.2384+335_2384+336insCTT
ENST00000696968.1:n.440+335_440+336insCTT
ENST00000696969.1:n.2164+335_2164+336insCTT
ENST00000458235.7:c.3207+335_3207+336insCTT MANE Select	ENSP00000391676.1:n.3207+335_3207+336insCTT
ENST00000458235.5:c.3207+335_3207+336insCTT	ENSP00000391676.1:n.3207+335_3207+336insCTT
ENST00000527031.5:n.2279-4463_2279-4462insCTT
ENST00000527670.5:c.3207+335_3207+336insCTT	ENSP00000432511.1:n.3207+335_3207+336insCTT
NM_000215.3:c.3207+335_3207+336insCTT , LRG_77t1:c.3207+335_3207+336insCTT	NP_000206.2:n.3207+335_3207+336insCTT
XM_005259896.2:c.3336+335_3336+336insCTT	XP_005259953.1:n.3336+335_3336+336insCTT
XM_006722745.2:c.3207+335_3207+336insCTT	XP_006722808.1:n.3207+335_3207+336insCTT
XM_005259896.3:c.3336+335_3336+336insCTT	XP_005259953.1:n.3336+335_3336+336insCTT
NM_000215.4:c.3207+335_3207+336insCTT MANE Select	NP_000206.2:n.3207+335_3207+336insCTT