Canonical Allele Identifier: CA2326057436

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17842999_17843000delinsGC , CM000681.2:g.17842999_17843000delinsGC	GRCh38
NC_000019.9:g.17953808_17953809delinsGC , CM000681.1:g.17953808_17953809delinsGC	GRCh37
NC_000019.8:g.17814808_17814809delinsGC	NCBI36
NG_007273.1:g.9992_9993delinsGC , LRG_77:g.9992_9993delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.566+27_566+28delinsGC	ENSP00000513006.1:n.566+27_566+28delinsGC
ENST00000458235.7:c.566+27_566+28delinsGC MANE Select	ENSP00000391676.1:n.566+27_566+28delinsGC
ENST00000458235.5:c.566+27_566+28delinsGC	ENSP00000391676.1:n.566+27_566+28delinsGC
ENST00000526008.5:n.666+27_666+28delinsGC
ENST00000527031.5:n.656+27_656+28delinsGC
ENST00000527670.5:c.566+27_566+28delinsGC	ENSP00000432511.1:n.566+27_566+28delinsGC
ENST00000528293.1:n.608_609delinsGC
ENST00000534444.1:c.566+27_566+28delinsGC	ENSP00000436421.1:n.566+27_566+28delinsGC
NM_000215.3:c.566+27_566+28delinsGC , LRG_77t1:c.566+27_566+28delinsGC	NP_000206.2:n.566+27_566+28delinsGC
XM_005259896.2:c.695+27_695+28delinsGC	XP_005259953.1:n.695+27_695+28delinsGC
XM_006722745.2:c.566+27_566+28delinsGC	XP_006722808.1:n.566+27_566+28delinsGC
XM_011527990.1:c.695+27_695+28delinsGC	XP_011526292.1:n.695+27_695+28delinsGC
XM_011527991.1:c.695+27_695+28delinsGC	XP_011526293.1:n.695+27_695+28delinsGC
XR_430137.2:n.705+27_705+28delinsGC
XM_005259896.3:c.695+27_695+28delinsGC	XP_005259953.1:n.695+27_695+28delinsGC
XM_011527991.2:c.695+27_695+28delinsGC	XP_011526293.1:n.695+27_695+28delinsGC
NM_000215.4:c.566+27_566+28delinsGC MANE Select	NP_000206.2:n.566+27_566+28delinsGC