Canonical Allele Identifier: CA2573911816
Gene: IL6R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154454508_154454524del , CM000663.2:g.154454508_154454524del GRCh38
NC_000001.10:g.154426984_154427000del , CM000663.1:g.154426984_154427000del GRCh37
NC_000001.9:g.152693608_152693624del NCBI36
NG_012087.1:g.54316_54332del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368485.8:c.1087_1103del MANE Select ENSP00000357470.3:p.Pro363GlyfsTer?
ENST00000344086.8:c.1066+4528_1066+4544del ENSP00000340589.4:n.1066+4528_1066+4544del
ENST00000368485.7:c.1087_1103del ENSP00000357470.3:p.Pro363GlyfsTer?
ENST00000502679.1:n.400_416del
ENST00000507256.1:n.285_301del
ENST00000515190.1:c.495_511del
NM_000565.3:c.1087_1103del NP_000556.1:p.Pro363GlyfsTer?
NM_181359.2:c.1066+4528_1066+4544del NP_852004.1:n.1066+4528_1066+4544del
XM_005245139.1:c.924+4528_924+4544del XP_005245196.1:n.924+4528_924+4544del
XM_005245140.1:c.945_961del XP_005245197.1:p.Tyr315Ter
XM_006711298.1:c.1135_1151del XP_006711361.1:p.Pro379GlyfsTer?
XM_006711299.2:c.1114+4528_1114+4544del XP_006711362.1:n.1114+4528_1114+4544del
XM_005245139.2:c.924+4528_924+4544del XP_005245196.1:n.924+4528_924+4544del
XM_005245140.3:c.945_961del XP_005245197.1:p.Tyr315Ter
XM_006711298.2:c.1135_1151del XP_006711361.1:p.Pro379GlyfsTer?
XM_006711299.4:c.1114+4528_1114+4544del XP_006711362.1:n.1114+4528_1114+4544del
XM_017001199.2:c.1234_1250del XP_016856688.1:p.Pro412GlyfsTer?
XM_017001200.2:c.1186_1202del XP_016856689.1:p.Pro396GlyfsTer?
XM_017001201.2:c.1044_1060del XP_016856690.1:p.Tyr348Ter
NM_000565.4:c.1087_1103del MANE Select NP_000556.1:p.Pro363GlyfsTer?
NM_181359.3:c.1066+4528_1066+4544del NP_852004.1:n.1066+4528_1066+4544del
NM_001382769.1:c.1186_1202del NP_001369698.1:p.Pro396GlyfsTer?
NM_001382770.1:c.1180_1196del NP_001369699.1:p.Pro394GlyfsTer?
NM_001382771.1:c.1135_1151del NP_001369700.1:p.Pro379GlyfsTer?
NM_001382772.1:c.1081_1097del NP_001369701.1:p.Pro361GlyfsTer?
NM_001382773.1:c.1114+4528_1114+4544del NP_001369702.1:n.1114+4528_1114+4544del
NM_001382774.1:c.727_743del NP_001369703.1:p.Pro243GlyfsTer?