Canonical Allele Identifier: CA2326057622

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843352_17843353delinsCT , CM000681.2:g.17843352_17843353delinsCT	GRCh38
NC_000019.9:g.17954161_17954162delinsCT , CM000681.1:g.17954161_17954162delinsCT	GRCh37
NC_000019.8:g.17815161_17815162delinsCT	NCBI36
NG_007273.1:g.9639_9640delinsAG , LRG_77:g.9639_9640delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.420+27_420+28delinsAG	ENSP00000513006.1:n.420+27_420+28delinsAG...
ENST00000458235.7:c.420+27_420+28delinsAG MANE Select	ENSP00000391676.1:n.420+27_420+28delinsAG...
ENST00000458235.5:c.420+27_420+28delinsAG	ENSP00000391676.1:n.420+27_420+28delinsAG...
ENST00000526008.5:n.520+27_520+28delinsAG
ENST00000527031.5:n.510+27_510+28delinsAG
ENST00000527670.5:c.420+27_420+28delinsAG	ENSP00000432511.1:n.420+27_420+28delinsAG...
ENST00000528293.1:n.435+27_435+28delinsAG
ENST00000534444.1:c.420+27_420+28delinsAG	ENSP00000436421.1:n.420+27_420+28delinsAG...
NM_000215.3:c.420+27_420+28delinsAG , LRG_77t1:c.420+27_420+28delinsAG	NP_000206.2:n.420+27_420+28delinsAG
XM_005259896.2:c.549+27_549+28delinsAG	XP_005259953.1:n.549+27_549+28delinsAG
XM_006722745.2:c.420+27_420+28delinsAG	XP_006722808.1:n.420+27_420+28delinsAG
XM_011527990.1:c.549+27_549+28delinsAG	XP_011526292.1:n.549+27_549+28delinsAG
XM_011527991.1:c.549+27_549+28delinsAG	XP_011526293.1:n.549+27_549+28delinsAG
XR_430137.2:n.559+27_559+28delinsAG
XM_005259896.3:c.549+27_549+28delinsAG	XP_005259953.1:n.549+27_549+28delinsAG
XM_011527991.2:c.549+27_549+28delinsAG	XP_011526293.1:n.549+27_549+28delinsAG
NM_000215.4:c.420+27_420+28delinsAG MANE Select	NP_000206.2:n.420+27_420+28delinsAG