Canonical Allele Identifier: CA2326057847

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843945_17843958delinsTGTGCCCTTCAGGA , CM000681.2:g.17843945_17843958delinsTGTGCCCTTCAGGA	GRCh38
NC_000019.9:g.17954754_17954767delinsTGTGCCCTTCAGGA , CM000681.1:g.17954754_17954767delinsTGTGCCCTTCAGGA	GRCh37
NC_000019.8:g.17815754_17815767delinsTGTGCCCTTCAGGA	NCBI36
NG_007273.1:g.9034_9047delinsTCCTGAAGGGCACA , LRG_77:g.9034_9047delinsTCCTGAAGGGCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.185-58_185-45delinsTCCTGAAGGGCACA	ENSP00000513006.1:n.185-58_185-45delinsTCCTGAAGGGCACA
ENST00000458235.7:c.185-58_185-45delinsTCCTGAAGGGCACA MANE Select	ENSP00000391676.1:n.185-58_185-45delinsTCCTGAAGGGCACA
ENST00000458235.5:c.185-58_185-45delinsTCCTGAAGGGCACA	ENSP00000391676.1:n.185-58_185-45delinsTCCTGAAGGGCACA
ENST00000526008.5:n.285-58_285-45delinsTCCTGAAGGGCACA
ENST00000527031.5:n.275-58_275-45delinsTCCTGAAGGGCACA
ENST00000527670.5:c.185-58_185-45delinsTCCTGAAGGGCACA	ENSP00000432511.1:n.185-58_185-45delinsTCCTGAAGGGCACA
ENST00000528293.1:n.323+276_323+289delinsTCCTGAAGGGCACA
ENST00000534444.1:c.185-58_185-45delinsTCCTGAAGGGCACA	ENSP00000436421.1:n.185-58_185-45delinsTCCTGAAGGGCACA
NM_000215.3:c.185-58_185-45delinsTCCTGAAGGGCACA , LRG_77t1:c.185-58_185-45delinsTCCTGAAGGGCACA	NP_000206.2:n.185-58_185-45delinsTCCTGAAGGGCACA
XM_005259896.2:c.314-58_314-45delinsTCCTGAAGGGCACA	XP_005259953.1:n.314-58_314-45delinsTCCTGAAGGGCACA
XM_006722745.2:c.185-58_185-45delinsTCCTGAAGGGCACA	XP_006722808.1:n.185-58_185-45delinsTCCTGAAGGGCACA
XM_011527990.1:c.314-58_314-45delinsTCCTGAAGGGCACA	XP_011526292.1:n.314-58_314-45delinsTCCTGAAGGGCACA
XM_011527991.1:c.314-58_314-45delinsTCCTGAAGGGCACA	XP_011526293.1:n.314-58_314-45delinsTCCTGAAGGGCACA
XR_430137.2:n.324-58_324-45delinsTCCTGAAGGGCACA
XM_005259896.3:c.314-58_314-45delinsTCCTGAAGGGCACA	XP_005259953.1:n.314-58_314-45delinsTCCTGAAGGGCACA
XM_011527991.2:c.314-58_314-45delinsTCCTGAAGGGCACA	XP_011526293.1:n.314-58_314-45delinsTCCTGAAGGGCACA
NM_000215.4:c.185-58_185-45delinsTCCTGAAGGGCACA MANE Select	NP_000206.2:n.185-58_185-45delinsTCCTGAAGGGCACA