Canonical Allele Identifier: CA2573909804
Gene: IL6R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154448215_154448217del , CM000663.2:g.154448215_154448217del GRCh38
NC_000001.10:g.154420691_154420693del , CM000663.1:g.154420691_154420693del GRCh37
NC_000001.9:g.152687315_152687317del NCBI36
NG_012087.1:g.48023_48025del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368485.8:c.996+44_996+46del MANE Select ENSP00000357470.3:n.996+44_996+46del
ENST00000344086.8:c.996+44_996+46del ENSP00000340589.4:n.996+44_996+46del
ENST00000368485.7:c.996+44_996+46del ENSP00000357470.3:n.996+44_996+46del
ENST00000476006.5:c.812+44_812+46del
ENST00000507256.1:n.194+44_194+46del
ENST00000515190.1:c.404+44_404+46del
NM_000565.3:c.996+44_996+46del NP_000556.1:n.996+44_996+46del
NM_181359.2:c.996+44_996+46del NP_852004.1:n.996+44_996+46del
XM_005245139.1:c.854+44_854+46del XP_005245196.1:n.854+44_854+46del
XM_005245140.1:c.854+44_854+46del XP_005245197.1:n.854+44_854+46del
XM_006711298.1:c.1044+44_1044+46del XP_006711361.1:n.1044+44_1044+46del
XM_006711299.2:c.1044+44_1044+46del XP_006711362.1:n.1044+44_1044+46del
XM_005245139.2:c.854+44_854+46del XP_005245196.1:n.854+44_854+46del
XM_005245140.3:c.854+44_854+46del XP_005245197.1:n.854+44_854+46del
XM_006711298.2:c.1044+44_1044+46del XP_006711361.1:n.1044+44_1044+46del
XM_006711299.4:c.1044+44_1044+46del XP_006711362.1:n.1044+44_1044+46del
XM_017001199.2:c.1044+44_1044+46del XP_016856688.1:n.1044+44_1044+46del
XM_017001200.2:c.996+44_996+46del XP_016856689.1:n.996+44_996+46del
XM_017001201.2:c.854+44_854+46del XP_016856690.1:n.854+44_854+46del
NM_000565.4:c.996+44_996+46del MANE Select NP_000556.1:n.996+44_996+46del
NM_181359.3:c.996+44_996+46del NP_852004.1:n.996+44_996+46del
NM_001382769.1:c.996+44_996+46del NP_001369698.1:n.996+44_996+46del
NM_001382770.1:c.1089+44_1089+46del NP_001369699.1:n.1089+44_1089+46del
NM_001382771.1:c.1044+44_1044+46del NP_001369700.1:n.1044+44_1044+46del
NM_001382772.1:c.990+44_990+46del NP_001369701.1:n.990+44_990+46del
NM_001382773.1:c.1044+44_1044+46del NP_001369702.1:n.1044+44_1044+46del
NM_001382774.1:c.636+44_636+46del NP_001369703.1:n.636+44_636+46del