Canonical Allele Identifier: CA2326057550

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843203_17843204delinsAG , CM000681.2:g.17843203_17843204delinsAG	GRCh38
NC_000019.9:g.17954012_17954013delinsAG , CM000681.1:g.17954012_17954013delinsAG	GRCh37
NC_000019.8:g.17815012_17815013delinsAG	NCBI36
NG_007273.1:g.9788_9789delinsCT , LRG_77:g.9788_9789delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.421-32_421-31delinsCT	ENSP00000513006.1:n.421-32_421-31delinsCT
ENST00000458235.7:c.421-32_421-31delinsCT MANE Select	ENSP00000391676.1:n.421-32_421-31delinsCT
ENST00000458235.5:c.421-32_421-31delinsCT	ENSP00000391676.1:n.421-32_421-31delinsCT
ENST00000526008.5:n.521-32_521-31delinsCT
ENST00000527031.5:n.511-32_511-31delinsCT
ENST00000527670.5:c.421-32_421-31delinsCT	ENSP00000432511.1:n.421-32_421-31delinsCT
ENST00000528293.1:n.436-32_436-31delinsCT
ENST00000534444.1:c.421-32_421-31delinsCT	ENSP00000436421.1:n.421-32_421-31delinsCT
NM_000215.3:c.421-32_421-31delinsCT , LRG_77t1:c.421-32_421-31delinsCT	NP_000206.2:n.421-32_421-31delinsCT
XM_005259896.2:c.550-32_550-31delinsCT	XP_005259953.1:n.550-32_550-31delinsCT
XM_006722745.2:c.421-32_421-31delinsCT	XP_006722808.1:n.421-32_421-31delinsCT
XM_011527990.1:c.550-32_550-31delinsCT	XP_011526292.1:n.550-32_550-31delinsCT
XM_011527991.1:c.550-32_550-31delinsCT	XP_011526293.1:n.550-32_550-31delinsCT
XR_430137.2:n.560-32_560-31delinsCT
XM_005259896.3:c.550-32_550-31delinsCT	XP_005259953.1:n.550-32_550-31delinsCT
XM_011527991.2:c.550-32_550-31delinsCT	XP_011526293.1:n.550-32_550-31delinsCT
NM_000215.4:c.421-32_421-31delinsCT MANE Select	NP_000206.2:n.421-32_421-31delinsCT