Canonical Allele Identifier: CA2326057629

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843361_17843362delinsAC , CM000681.2:g.17843361_17843362delinsAC	GRCh38
NC_000019.9:g.17954170_17954171delinsAC , CM000681.1:g.17954170_17954171delinsAC	GRCh37
NC_000019.8:g.17815170_17815171delinsAC	NCBI36
NG_007273.1:g.9630_9631delinsGT , LRG_77:g.9630_9631delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.420+18_420+19delinsGT	ENSP00000513006.1:n.420+18_420+19delinsGT...
ENST00000458235.7:c.420+18_420+19delinsGT MANE Select	ENSP00000391676.1:n.420+18_420+19delinsGT...
ENST00000458235.5:c.420+18_420+19delinsGT	ENSP00000391676.1:n.420+18_420+19delinsGT...
ENST00000526008.5:n.520+18_520+19delinsGT
ENST00000527031.5:n.510+18_510+19delinsGT
ENST00000527670.5:c.420+18_420+19delinsGT	ENSP00000432511.1:n.420+18_420+19delinsGT...
ENST00000528293.1:n.435+18_435+19delinsGT
ENST00000534444.1:c.420+18_420+19delinsGT	ENSP00000436421.1:n.420+18_420+19delinsGT...
NM_000215.3:c.420+18_420+19delinsGT , LRG_77t1:c.420+18_420+19delinsGT	NP_000206.2:n.420+18_420+19delinsGT
XM_005259896.2:c.549+18_549+19delinsGT	XP_005259953.1:n.549+18_549+19delinsGT
XM_006722745.2:c.420+18_420+19delinsGT	XP_006722808.1:n.420+18_420+19delinsGT
XM_011527990.1:c.549+18_549+19delinsGT	XP_011526292.1:n.549+18_549+19delinsGT
XM_011527991.1:c.549+18_549+19delinsGT	XP_011526293.1:n.549+18_549+19delinsGT
XR_430137.2:n.559+18_559+19delinsGT
XM_005259896.3:c.549+18_549+19delinsGT	XP_005259953.1:n.549+18_549+19delinsGT
XM_011527991.2:c.549+18_549+19delinsGT	XP_011526293.1:n.549+18_549+19delinsGT
NM_000215.4:c.420+18_420+19delinsGT MANE Select	NP_000206.2:n.420+18_420+19delinsGT