Canonical Allele Identifier: CA1148412767
Gene: IL6R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154465155_154465181delinsGCGGGCTCTGAAGGAAGGCAAGACAAG , CM000663.2:g.154465155_154465181delinsGCGGGCTCTGAAGGAAGGCAAGACAAG GRCh38
NC_000001.10:g.154437631_154437657delinsGCGGGCTCTGAAGGAAGGCAAGACAAG , CM000663.1:g.154437631_154437657delinsGCGGGCTCTGAAGGAAGGCAAGACAAG GRCh37
NC_000001.9:g.152704255_152704281delinsGCGGGCTCTGAAGGAAGGCAAGACAAG NCBI36
NG_012087.1:g.64963_64989delinsGCGGGCTCTGAAGGAAGGCAAGACAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000368485.8:c.1182_1208delinsGCGGGCTCTGAAGGAAGGCAAGACAAG MANE Select ENSP00000357470.3:p.Leu394=
ENST00000344086.8:c.1088_*16delinsGCGGGCTCTGAAGGAAGGCAAGACAAG ENSP00000340589.4:n.[c.1088_*16delinsGCGGGCTCTGAAGGAAGGCAAGAC...
ENST00000368485.7:c.1182_1208delinsGCGGGCTCTGAAGGAAGGCAAGACAAG ENSP00000357470.3:p.Leu394=
ENST00000502679.1:n.495_521delinsGCGGGCTCTGAAGGAAGGCAAGACAAG
ENST00000507256.1:n.380_406delinsGCGGGCTCTGAAGGAAGGCAAGACAAG
NM_000565.3:c.1182_1208delinsGCGGGCTCTGAAGGAAGGCAAGACAAG NP_000556.1:p.Leu394=
NM_181359.2:c.1088_*16delinsGCGGGCTCTGAAGGAAGGCAAGACAAG NP_852004.1:n.[c.1088_*16delinsGCGGGCTCTGAAGGAAGGCAAGACAAG;Cy...
XM_005245139.1:c.946_972delinsGCGGGCTCTGAAGGAAGGCAAGACAAG XP_005245196.1:p.Ala316=
XM_005245140.1:c.*23_*49delinsGCGGGCTCTGAAGGAAGGCAAGACAAG XP_005245197.1:n.*23_*49delinsGCGGGCTCTGAAGGAAGGCAAGACAAG
XM_006711298.1:c.1230_1256delinsGCGGGCTCTGAAGGAAGGCAAGACAAG XP_006711361.1:p.Leu410=
XM_006711299.2:c.1136_*16delinsGCGGGCTCTGAAGGAAGGCAAGACAAG XP_006711362.1:n.[c.1136_*16delinsGCGGGCTCTGAAGGAAGGCAAGACAAG...
XM_005245139.2:c.946_972delinsGCGGGCTCTGAAGGAAGGCAAGACAAG XP_005245196.1:p.Ala316=
XM_005245140.3:c.*23_*49delinsGCGGGCTCTGAAGGAAGGCAAGACAAG XP_005245197.1:n.*23_*49delinsGCGGGCTCTGAAGGAAGGCAAGACAAG
XM_006711298.2:c.1230_1256delinsGCGGGCTCTGAAGGAAGGCAAGACAAG XP_006711361.1:p.Leu410=
XM_006711299.4:c.1136_*16delinsGCGGGCTCTGAAGGAAGGCAAGACAAG XP_006711362.1:n.[c.1136_*16delinsGCGGGCTCTGAAGGAAGGCAAGACAAG...
XM_017001199.2:c.1329_1355delinsGCGGGCTCTGAAGGAAGGCAAGACAAG XP_016856688.1:p.Leu443=
XM_017001200.2:c.1281_1307delinsGCGGGCTCTGAAGGAAGGCAAGACAAG XP_016856689.1:p.Leu427=
XM_017001201.2:c.*23_*49delinsGCGGGCTCTGAAGGAAGGCAAGACAAG XP_016856690.1:n.*23_*49delinsGCGGGCTCTGAAGGAAGGCAAGACAAG
NM_000565.4:c.1182_1208delinsGCGGGCTCTGAAGGAAGGCAAGACAAG MANE Select NP_000556.1:p.Leu394=
NM_181359.3:c.1088_*16delinsGCGGGCTCTGAAGGAAGGCAAGACAAG NP_852004.1:n.[c.1088_*16delinsGCGGGCTCTGAAGGAAGGCAAGACAAG;Cy...
NM_001382769.1:c.1281_1307delinsGCGGGCTCTGAAGGAAGGCAAGACAAG NP_001369698.1:p.Leu427=
NM_001382770.1:c.1275_1301delinsGCGGGCTCTGAAGGAAGGCAAGACAAG NP_001369699.1:p.Leu425=
NM_001382771.1:c.1230_1256delinsGCGGGCTCTGAAGGAAGGCAAGACAAG NP_001369700.1:p.Leu410=
NM_001382772.1:c.1176_1202delinsGCGGGCTCTGAAGGAAGGCAAGACAAG NP_001369701.1:p.Leu392=
NM_001382773.1:c.1136_*16delinsGCGGGCTCTGAAGGAAGGCAAGACAAG NP_001369702.1:n.[c.1136_*16delinsGCGGGCTCTGAAGGAAGGCAAGACAAG...
NM_001382774.1:c.822_848delinsGCGGGCTCTGAAGGAAGGCAAGACAAG NP_001369703.1:p.Leu274=