Canonical Allele Identifier: CA2326051016

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829651_17829653delinsTAG , CM000681.2:g.17829651_17829653delinsTAG	GRCh38
NC_000019.9:g.17940460_17940462delinsTAG , CM000681.1:g.17940460_17940462delinsTAG	GRCh37
NC_000019.8:g.17801460_17801462delinsTAG	NCBI36
NG_007273.1:g.23339_23341delinsCTA , LRG_77:g.23339_23341delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+455_*1764+457delinsCTA	ENSP00000513006.1:n.*1764+455_*1764+457delinsCTA
ENST00000696967.1:n.2384+455_2384+457delinsCTA
ENST00000696968.1:n.440+455_440+457delinsCTA
ENST00000696969.1:n.2164+455_2164+457delinsCTA
ENST00000458235.7:c.3207+455_3207+457delinsCTA MANE Select	ENSP00000391676.1:n.3207+455_3207+457delinsCTA
ENST00000458235.5:c.3207+455_3207+457delinsCTA	ENSP00000391676.1:n.3207+455_3207+457delinsCTA
ENST00000527031.5:n.2279-4343_2279-4341delinsCTA
ENST00000527670.5:c.3207+455_3207+457delinsCTA	ENSP00000432511.1:n.3207+455_3207+457delinsCTA
NM_000215.3:c.3207+455_3207+457delinsCTA , LRG_77t1:c.3207+455_3207+457delinsCTA	NP_000206.2:n.3207+455_3207+457delinsCTA
XM_005259896.2:c.3336+455_3336+457delinsCTA	XP_005259953.1:n.3336+455_3336+457delinsCTA
XM_006722745.2:c.3207+455_3207+457delinsCTA	XP_006722808.1:n.3207+455_3207+457delinsCTA
XM_005259896.3:c.3336+455_3336+457delinsCTA	XP_005259953.1:n.3336+455_3336+457delinsCTA
NM_000215.4:c.3207+455_3207+457delinsCTA MANE Select	NP_000206.2:n.3207+455_3207+457delinsCTA