Canonical Allele Identifier: CA2813814994
Gene: JAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17843262_17843263insTGATCCAGGGCCTGAGCTTCGTGACGCGGAGGCGTATTCGGAGGA , CM000681.2:g.17843262_17843263insTGATCCAGGGCCTGAGCTTCGTGACGCGGAGGCGTATTCGGAGGA GRCh38
NC_000019.9:g.17954071_17954072insTGATCCAGGGCCTGAGCTTCGTGACGCGGAGGCGTATTCGGAGGA , CM000681.1:g.17954071_17954072insTGATCCAGGGCCTGAGCTTCGTGACGCGGAGGCGTATTCGGAGGA GRCh37
NC_000019.8:g.17815071_17815072insTGATCCAGGGCCTGAGCTTCGTGACGCGGAGGCGTATTCGGAGGA NCBI36
NG_007273.1:g.9729_9730insTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCA , LRG_77:g.9729_9730insTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.421-91_421-90insTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCA ENSP00000513006.1:n.421-91_421-90insTCCTCCGAATACGCCTCCGCGTCAC...
ENST00000458235.7:c.421-91_421-90insTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCA MANE Select ENSP00000391676.1:n.421-91_421-90insTCCTCCGAATACGCCTCCGCGTCAC...
ENST00000458235.5:c.421-91_421-90insTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCA ENSP00000391676.1:n.421-91_421-90insTCCTCCGAATACGCCTCCGCGTCAC...
ENST00000526008.5:n.521-91_521-90insTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCA
ENST00000527031.5:n.511-91_511-90insTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCA
ENST00000527670.5:c.421-91_421-90insTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCA ENSP00000432511.1:n.421-91_421-90insTCCTCCGAATACGCCTCCGCGTCAC...
ENST00000528293.1:n.436-91_436-90insTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCA
ENST00000534444.1:c.421-91_421-90insTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCA ENSP00000436421.1:n.421-91_421-90insTCCTCCGAATACGCCTCCGCGTCAC...
NM_000215.3:c.421-91_421-90insTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCA , LRG_77t1:c.421-91_421-90insTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCA NP_000206.2:n.421-91_421-90insTCCTCCGAATACGCCTCCGCGTCACGAAGCT...
XM_005259896.2:c.550-91_550-90insTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCA XP_005259953.1:n.550-91_550-90insTCCTCCGAATACGCCTCCGCGTCACGAA...
XM_006722745.2:c.421-91_421-90insTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCA XP_006722808.1:n.421-91_421-90insTCCTCCGAATACGCCTCCGCGTCACGAA...
XM_011527990.1:c.550-91_550-90insTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCA XP_011526292.1:n.550-91_550-90insTCCTCCGAATACGCCTCCGCGTCACGAA...
XM_011527991.1:c.550-91_550-90insTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCA XP_011526293.1:n.550-91_550-90insTCCTCCGAATACGCCTCCGCGTCACGAA...
XR_430137.2:n.560-91_560-90insTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCA
XM_005259896.3:c.550-91_550-90insTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCA XP_005259953.1:n.550-91_550-90insTCCTCCGAATACGCCTCCGCGTCACGAA...
XM_011527991.2:c.550-91_550-90insTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCA XP_011526293.1:n.550-91_550-90insTCCTCCGAATACGCCTCCGCGTCACGAA...
NM_000215.4:c.421-91_421-90insTCCTCCGAATACGCCTCCGCGTCACGAAGCTCAGGCCCTGGATCA MANE Select NP_000206.2:n.421-91_421-90insTCCTCCGAATACGCCTCCGCGTCACGAAGCT...