Canonical Allele Identifier: CA2573909651
Gene: IL6R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154465324_154465339del , CM000663.2:g.154465324_154465339del GRCh38
NC_000001.10:g.154437800_154437815del , CM000663.1:g.154437800_154437815del GRCh37
NC_000001.9:g.152704424_152704439del NCBI36
NG_012087.1:g.65132_65147del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368485.8:c.1351_1366del MANE Select ENSP00000357470.3:p.Arg451LeufsTer?
ENST00000344086.8:c.*159_*174del ENSP00000340589.4:n.*159_*174del
ENST00000368485.7:c.1351_1366del ENSP00000357470.3:p.Arg451LeufsTer?
NM_000565.3:c.1351_1366del NP_000556.1:p.Arg451LeufsTer?
NM_181359.2:c.*159_*174del NP_852004.1:n.*159_*174del
XM_005245139.1:c.*32_*47del XP_005245196.1:n.*32_*47del
XM_005245140.1:c.*192_*207del XP_005245197.1:n.*192_*207del
XM_006711298.1:c.1399_1414del XP_006711361.1:p.Arg467LeufsTer?
XM_005245139.2:c.*32_*47del XP_005245196.1:n.*32_*47del
XM_005245140.3:c.*192_*207del XP_005245197.1:n.*192_*207del
XM_006711298.2:c.1399_1414del XP_006711361.1:p.Arg467LeufsTer?
XM_017001199.2:c.1498_1513del XP_016856688.1:p.Arg500LeufsTer?
XM_017001200.2:c.1450_1465del XP_016856689.1:p.Arg484LeufsTer?
XM_017001201.2:c.*192_*207del XP_016856690.1:n.*192_*207del
NM_000565.4:c.1351_1366del MANE Select NP_000556.1:p.Arg451LeufsTer?
NM_181359.3:c.*159_*174del NP_852004.1:n.*159_*174del
NM_001382769.1:c.1450_1465del NP_001369698.1:p.Arg484LeufsTer?
NM_001382770.1:c.1444_1459del NP_001369699.1:p.Arg482LeufsTer?
NM_001382771.1:c.1399_1414del NP_001369700.1:p.Arg467LeufsTer?
NM_001382772.1:c.1345_1360del NP_001369701.1:p.Arg449LeufsTer?
NM_001382773.1:c.*159_*174del NP_001369702.1:n.*159_*174del
NM_001382774.1:c.991_1006del NP_001369703.1:p.Arg331LeufsTer?