Canonical Allele Identifier: CA2573909562
Gene: IL6R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154465299del , CM000663.2:g.154465299del GRCh38
NC_000001.10:g.154437775del , CM000663.1:g.154437775del GRCh37
NC_000001.9:g.152704399del NCBI36
NG_012087.1:g.65107del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368485.8:c.1326del MANE Select ENSP00000357470.3:p.Ser443ArgfsTer?
ENST00000344086.8:c.*134del ENSP00000340589.4:n.*134del
ENST00000368485.7:c.1326del ENSP00000357470.3:p.Ser443ArgfsTer?
ENST00000507256.1:n.524del
NM_000565.3:c.1326del NP_000556.1:p.Ser443ArgfsTer?
NM_181359.2:c.*134del NP_852004.1:n.*134del
XM_005245139.1:c.*7del XP_005245196.1:n.*7del
XM_005245140.1:c.*167del XP_005245197.1:n.*167del
XM_006711298.1:c.1374del XP_006711361.1:p.Ser459ArgfsTer?
XM_005245139.2:c.*7del XP_005245196.1:n.*7del
XM_005245140.3:c.*167del XP_005245197.1:n.*167del
XM_006711298.2:c.1374del XP_006711361.1:p.Ser459ArgfsTer?
XM_017001199.2:c.1473del XP_016856688.1:p.Ser492ArgfsTer?
XM_017001200.2:c.1425del XP_016856689.1:p.Ser476ArgfsTer?
XM_017001201.2:c.*167del XP_016856690.1:n.*167del
NM_000565.4:c.1326del MANE Select NP_000556.1:p.Ser443ArgfsTer?
NM_181359.3:c.*134del NP_852004.1:n.*134del
NM_001382769.1:c.1425del NP_001369698.1:p.Ser476ArgfsTer?
NM_001382770.1:c.1419del NP_001369699.1:p.Ser474ArgfsTer?
NM_001382771.1:c.1374del NP_001369700.1:p.Ser459ArgfsTer?
NM_001382772.1:c.1320del NP_001369701.1:p.Ser441ArgfsTer?
NM_001382773.1:c.*134del NP_001369702.1:n.*134del
NM_001382774.1:c.966del NP_001369703.1:p.Ser323ArgfsTer?