Canonical Allele Identifier: CA2326057433

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17842985_17843021delinsACTCCCAAGCAGAGGCCGTCCCCACAGCCTGGTGGCT , CM000681.2:g.17842985_17843021delinsACTCCCAAGCAGAGGCCGTCCCCACAGCCTGGTGGCT	GRCh38
NC_000019.9:g.17953794_17953830delinsACTCCCAAGCAGAGGCCGTCCCCACAGCCTGGTGGCT , CM000681.1:g.17953794_17953830delinsACTCCCAAGCAGAGGCCGTCCCCACAGCCTGGTGGCT	GRCh37
NC_000019.8:g.17814794_17814830delinsACTCCCAAGCAGAGGCCGTCCCCACAGCCTGGTGGCT	NCBI36
NG_007273.1:g.9971_10007delinsAGCCACCAGGCTGTGGGGACGGCCTCTGCTTGGGAGT , LRG_77:g.9971_10007delinsAGCCACCAGGCTGTGGGGACGGCCTCTGCTTGGGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.566+6_566+42delinsAGCCACCAGGCTGTGGGGACGGCCTCTGCTTGGGAGT	ENSP00000513006.1:n.566+6_566+42delinsAGCCACCAGGCTGTGGGGACGGC...
ENST00000458235.7:c.566+6_566+42delinsAGCCACCAGGCTGTGGGGACGGCCTCTGCTTGGGAGT MANE Select	ENSP00000391676.1:n.566+6_566+42delinsAGCCACCAGGCTGTGGGGACGGC...
ENST00000458235.5:c.566+6_566+42delinsAGCCACCAGGCTGTGGGGACGGCCTCTGCTTGGGAGT	ENSP00000391676.1:n.566+6_566+42delinsAGCCACCAGGCTGTGGGGACGGC...
ENST00000526008.5:n.666+6_666+42delinsAGCCACCAGGCTGTGGGGACGGCCTCTGCTTGGGAGT
ENST00000527031.5:n.656+6_656+42delinsAGCCACCAGGCTGTGGGGACGGCCTCTGCTTGGGAGT
ENST00000527670.5:c.566+6_566+42delinsAGCCACCAGGCTGTGGGGACGGCCTCTGCTTGGGAGT	ENSP00000432511.1:n.566+6_566+42delinsAGCCACCAGGCTGTGGGGACGGC...
ENST00000528293.1:n.587_623delinsAGCCACCAGGCTGTGGGGACGGCCTCTGCTTGGGAGT
ENST00000534444.1:c.566+6_566+42delinsAGCCACCAGGCTGTGGGGACGGCCTCTGCTTGGGAGT	ENSP00000436421.1:n.566+6_566+42delinsAGCCACCAGGCTGTGGGGACGGC...
NM_000215.3:c.566+6_566+42delinsAGCCACCAGGCTGTGGGGACGGCCTCTGCTTGGGAGT , LRG_77t1:c.566+6_566+42delinsAGCCACCAGGCTGTGGGGACGGCCTCTGCTTGGGAGT	NP_000206.2:n.566+6_566+42delinsAGCCACCAGGCTGTGGGGACGGCCTCTGC...
XM_005259896.2:c.695+6_695+42delinsAGCCACCAGGCTGTGGGGACGGCCTCTGCTTGGGAGT	XP_005259953.1:n.695+6_695+42delinsAGCCACCAGGCTGTGGGGACGGCCTC...
XM_006722745.2:c.566+6_566+42delinsAGCCACCAGGCTGTGGGGACGGCCTCTGCTTGGGAGT	XP_006722808.1:n.566+6_566+42delinsAGCCACCAGGCTGTGGGGACGGCCTC...
XM_011527990.1:c.695+6_695+42delinsAGCCACCAGGCTGTGGGGACGGCCTCTGCTTGGGAGT	XP_011526292.1:n.695+6_695+42delinsAGCCACCAGGCTGTGGGGACGGCCTC...
XM_011527991.1:c.695+6_695+42delinsAGCCACCAGGCTGTGGGGACGGCCTCTGCTTGGGAGT	XP_011526293.1:n.695+6_695+42delinsAGCCACCAGGCTGTGGGGACGGCCTC...
XR_430137.2:n.705+6_705+42delinsAGCCACCAGGCTGTGGGGACGGCCTCTGCTTGGGAGT
XM_005259896.3:c.695+6_695+42delinsAGCCACCAGGCTGTGGGGACGGCCTCTGCTTGGGAGT	XP_005259953.1:n.695+6_695+42delinsAGCCACCAGGCTGTGGGGACGGCCTC...
XM_011527991.2:c.695+6_695+42delinsAGCCACCAGGCTGTGGGGACGGCCTCTGCTTGGGAGT	XP_011526293.1:n.695+6_695+42delinsAGCCACCAGGCTGTGGGGACGGCCTC...
NM_000215.4:c.566+6_566+42delinsAGCCACCAGGCTGTGGGGACGGCCTCTGCTTGGGAGT MANE Select	NP_000206.2:n.566+6_566+42delinsAGCCACCAGGCTGTGGGGACGGCCTCTGC...