Canonical Allele Identifier: CA2991933709
Community Standard Title: NM_144701.3(IL23R):c.1786_1787del (p.Ser596LeufsTer7)
Gene: IL23R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67259024_67259025del , CM000663.2:g.67259024_67259025del GRCh38
NC_000001.10:g.67724707_67724708del , CM000663.1:g.67724707_67724708del GRCh37
NC_000001.9:g.67497295_67497296del NCBI36
NG_011498.1:g.97539_97540del

Transcript Alleles

HGVS Amino-acid Change
NM_144701.3:c.1786_1787del MANE Select NP_653302.2:p.Ser596LeufsTer7
ENST00000347310.10:c.1786_1787del MANE Select ENSP00000321345.5:p.Ser596LeufsTer7
NM_144701.2:c.1786_1787del NP_653302.2:p.Ser596LeufsTer7
ENST00000347310.9:c.1786_1787del ENSP00000321345.5:p.Ser596LeufsTer7
ENST00000395227.2:c.580_581del ENSP00000378652.2:p.Ser194LeufsTer7
ENST00000425614.3:c.1021_1022del ENSP00000387640.2:p.Ser341LeufsTer7
ENST00000473881.2:c.*612_*613del ENSP00000486667.1:n.*612_*613del
ENST00000637002.1:c.1177_1178del ENSP00000490340.1:p.Ser393LeufsTer7
ENST00000697149.1:c.1625_1626del ENSP00000513138.1:n.1625_1626del
ENST00000697150.1:c.1683_1684del ENSP00000513139.1:n.1683_1684del
ENST00000697151.1:c.1616_1617del ENSP00000513140.1:n.1616_1617del
ENST00000697164.1:c.1696_1697del ENSP00000513153.1:p.Ser566LeufsTer7
ENST00000697165.1:c.1483_1484del ENSP00000513154.1:p.Ser495LeufsTer7
XM_005270516.2:c.1024_1025del XP_005270573.1:p.Ser342LeufsTer7
XM_011540789.1:c.1876_1877del XP_011539091.1:p.Ser626LeufsTer7
XM_011540790.1:c.1786_1787del XP_011539092.1:p.Ser596LeufsTer7
XM_011540790.3:c.1786_1787del XP_011539092.1:p.Ser596LeufsTer7
XM_011540791.1:c.1786_1787del XP_011539093.1:p.Ser596LeufsTer7
XM_011540791.3:c.1786_1787del XP_011539093.1:p.Ser596LeufsTer7
XR_001736993.1:n.1866_1867del