Canonical Allele Identifier: CA2326051078

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829771_17829773delinsGAA , CM000681.2:g.17829771_17829773delinsGAA	GRCh38
NC_000019.9:g.17940580_17940582delinsGAA , CM000681.1:g.17940580_17940582delinsGAA	GRCh37
NC_000019.8:g.17801580_17801582delinsGAA	NCBI36
NG_007273.1:g.23219_23221delinsTTC , LRG_77:g.23219_23221delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+335_*1764+337delinsTTC	ENSP00000513006.1:n.*1764+335_*1764+337delinsTTC
ENST00000696967.1:n.2384+335_2384+337delinsTTC
ENST00000696968.1:n.440+335_440+337delinsTTC
ENST00000696969.1:n.2164+335_2164+337delinsTTC
ENST00000458235.7:c.3207+335_3207+337delinsTTC MANE Select	ENSP00000391676.1:n.3207+335_3207+337delinsTTC
ENST00000458235.5:c.3207+335_3207+337delinsTTC	ENSP00000391676.1:n.3207+335_3207+337delinsTTC
ENST00000527031.5:n.2279-4463_2279-4461delinsTTC
ENST00000527670.5:c.3207+335_3207+337delinsTTC	ENSP00000432511.1:n.3207+335_3207+337delinsTTC
NM_000215.3:c.3207+335_3207+337delinsTTC , LRG_77t1:c.3207+335_3207+337delinsTTC	NP_000206.2:n.3207+335_3207+337delinsTTC
XM_005259896.2:c.3336+335_3336+337delinsTTC	XP_005259953.1:n.3336+335_3336+337delinsTTC
XM_006722745.2:c.3207+335_3207+337delinsTTC	XP_006722808.1:n.3207+335_3207+337delinsTTC
XM_005259896.3:c.3336+335_3336+337delinsTTC	XP_005259953.1:n.3336+335_3336+337delinsTTC
NM_000215.4:c.3207+335_3207+337delinsTTC MANE Select	NP_000206.2:n.3207+335_3207+337delinsTTC