Canonical Allele Identifier: CA2326057793

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843819_17843822delinsGAGA , CM000681.2:g.17843819_17843822delinsGAGA	GRCh38
NC_000019.9:g.17954628_17954631delinsGAGA , CM000681.1:g.17954628_17954631delinsGAGA	GRCh37
NC_000019.8:g.17815628_17815631delinsGAGA	NCBI36
NG_007273.1:g.9170_9173delinsTCTC , LRG_77:g.9170_9173delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.263_266delinsTCTC	ENSP00000513006.1:p.Phe88=
ENST00000458235.7:c.263_266delinsTCTC MANE Select	ENSP00000391676.1:p.Phe88=
ENST00000458235.5:c.263_266delinsTCTC	ENSP00000391676.1:p.Phe88=
ENST00000526008.5:n.363_366delinsTCTC
ENST00000527031.5:n.353_356delinsTCTC
ENST00000527670.5:c.263_266delinsTCTC	ENSP00000432511.1:p.Phe88=
ENST00000528293.1:n.324-331_324-328delinsTCTC
ENST00000534444.1:c.263_266delinsTCTC	ENSP00000436421.1:p.Phe88=
NM_000215.3:c.263_266delinsTCTC , LRG_77t1:c.263_266delinsTCTC	NP_000206.2:p.Phe88=
XM_005259896.2:c.392_395delinsTCTC	XP_005259953.1:p.Phe131=
XM_006722745.2:c.263_266delinsTCTC	XP_006722808.1:p.Phe88=
XM_011527990.1:c.392_395delinsTCTC	XP_011526292.1:p.Phe131=
XM_011527991.1:c.392_395delinsTCTC	XP_011526293.1:p.Phe131=
XR_430137.2:n.402_405delinsTCTC
XM_005259896.3:c.392_395delinsTCTC	XP_005259953.1:p.Phe131=
XM_011527991.2:c.392_395delinsTCTC	XP_011526293.1:p.Phe131=
NM_000215.4:c.263_266delinsTCTC MANE Select	NP_000206.2:p.Phe88=