Canonical Allele Identifier: CA2326057459

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843047_17843048delinsTC , CM000681.2:g.17843047_17843048delinsTC	GRCh38
NC_000019.9:g.17953856_17953857delinsTC , CM000681.1:g.17953856_17953857delinsTC	GRCh37
NC_000019.8:g.17814856_17814857delinsTC	NCBI36
NG_007273.1:g.9944_9945delinsGA , LRG_77:g.9944_9945delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.545_546delinsGA	ENSP00000513006.1:p.Gly182=
ENST00000458235.7:c.545_546delinsGA MANE Select	ENSP00000391676.1:p.Gly182=
ENST00000458235.5:c.545_546delinsGA	ENSP00000391676.1:p.Gly182=
ENST00000526008.5:n.645_646delinsGA
ENST00000527031.5:n.635_636delinsGA
ENST00000527670.5:c.545_546delinsGA	ENSP00000432511.1:p.Gly182=
ENST00000528293.1:n.560_561delinsGA
ENST00000534444.1:c.545_546delinsGA	ENSP00000436421.1:p.Gly182=
NM_000215.3:c.545_546delinsGA , LRG_77t1:c.545_546delinsGA	NP_000206.2:p.Gly182=
XM_005259896.2:c.674_675delinsGA	XP_005259953.1:p.Gly225=
XM_006722745.2:c.545_546delinsGA	XP_006722808.1:p.Gly182=
XM_011527990.1:c.674_675delinsGA	XP_011526292.1:p.Gly225=
XM_011527991.1:c.674_675delinsGA	XP_011526293.1:p.Gly225=
XR_430137.2:n.684_685delinsGA
XM_005259896.3:c.674_675delinsGA	XP_005259953.1:p.Gly225=
XM_011527991.2:c.674_675delinsGA	XP_011526293.1:p.Gly225=
NM_000215.4:c.545_546delinsGA MANE Select	NP_000206.2:p.Gly182=