Canonical Allele Identifier: CA2813814991

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843210_17843211insAAACCCCAAACACACCCAACA , CM000681.2:g.17843210_17843211insAAACCCCAAACACACCCAACA	GRCh38
NC_000019.9:g.17954019_17954020insAAACCCCAAACACACCCAACA , CM000681.1:g.17954019_17954020insAAACCCCAAACACACCCAACA	GRCh37
NC_000019.8:g.17815019_17815020insAAACCCCAAACACACCCAACA	NCBI36
NG_007273.1:g.9781_9782insTGTTGGGTGTGTTTGGGGTTT , LRG_77:g.9781_9782insTGTTGGGTGTGTTTGGGGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.421-39_421-38insTGTTGGGTGTGTTTGGGGTTT	ENSP00000513006.1:n.421-39_421-38insTGTTGGGTGTGTTTGGGGTTT
ENST00000458235.7:c.421-39_421-38insTGTTGGGTGTGTTTGGGGTTT MANE Select	ENSP00000391676.1:n.421-39_421-38insTGTTGGGTGTGTTTGGGGTTT
ENST00000458235.5:c.421-39_421-38insTGTTGGGTGTGTTTGGGGTTT	ENSP00000391676.1:n.421-39_421-38insTGTTGGGTGTGTTTGGGGTTT
ENST00000526008.5:n.521-39_521-38insTGTTGGGTGTGTTTGGGGTTT
ENST00000527031.5:n.511-39_511-38insTGTTGGGTGTGTTTGGGGTTT
ENST00000527670.5:c.421-39_421-38insTGTTGGGTGTGTTTGGGGTTT	ENSP00000432511.1:n.421-39_421-38insTGTTGGGTGTGTTTGGGGTTT
ENST00000528293.1:n.436-39_436-38insTGTTGGGTGTGTTTGGGGTTT
ENST00000534444.1:c.421-39_421-38insTGTTGGGTGTGTTTGGGGTTT	ENSP00000436421.1:n.421-39_421-38insTGTTGGGTGTGTTTGGGGTTT
NM_000215.3:c.421-39_421-38insTGTTGGGTGTGTTTGGGGTTT , LRG_77t1:c.421-39_421-38insTGTTGGGTGTGTTTGGGGTTT	NP_000206.2:n.421-39_421-38insTGTTGGGTGTGTTTGGGGTTT
XM_005259896.2:c.550-39_550-38insTGTTGGGTGTGTTTGGGGTTT	XP_005259953.1:n.550-39_550-38insTGTTGGGTGTGTTTGGGGTTT
XM_006722745.2:c.421-39_421-38insTGTTGGGTGTGTTTGGGGTTT	XP_006722808.1:n.421-39_421-38insTGTTGGGTGTGTTTGGGGTTT
XM_011527990.1:c.550-39_550-38insTGTTGGGTGTGTTTGGGGTTT	XP_011526292.1:n.550-39_550-38insTGTTGGGTGTGTTTGGGGTTT
XM_011527991.1:c.550-39_550-38insTGTTGGGTGTGTTTGGGGTTT	XP_011526293.1:n.550-39_550-38insTGTTGGGTGTGTTTGGGGTTT
XR_430137.2:n.560-39_560-38insTGTTGGGTGTGTTTGGGGTTT
XM_005259896.3:c.550-39_550-38insTGTTGGGTGTGTTTGGGGTTT	XP_005259953.1:n.550-39_550-38insTGTTGGGTGTGTTTGGGGTTT
XM_011527991.2:c.550-39_550-38insTGTTGGGTGTGTTTGGGGTTT	XP_011526293.1:n.550-39_550-38insTGTTGGGTGTGTTTGGGGTTT
NM_000215.4:c.421-39_421-38insTGTTGGGTGTGTTTGGGGTTT MANE Select	NP_000206.2:n.421-39_421-38insTGTTGGGTGTGTTTGGGGTTT