Canonical Allele Identifier: CA2573909304
Gene: IL6R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154465137del , CM000663.2:g.154465137del GRCh38
NC_000001.10:g.154437613del , CM000663.1:g.154437613del GRCh37
NC_000001.9:g.152704237del NCBI36
NG_012087.1:g.64945del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368485.8:c.1164del MANE Select ENSP00000357470.3:p.Phe388LeufsTer10
ENST00000344086.8:c.1070del ENSP00000340589.4:p.Ser357Ter
ENST00000368485.7:c.1164del ENSP00000357470.3:p.Phe388LeufsTer10
ENST00000502679.1:n.477del
ENST00000507256.1:n.362del
NM_000565.3:c.1164del NP_000556.1:p.Phe388LeufsTer10
NM_181359.2:c.1070del NP_852004.1:p.Ser357Ter
XM_005245139.1:c.928del XP_005245196.1:p.Gln310LysfsTer?
XM_005245140.1:c.*5del XP_005245197.1:n.*5del
XM_006711298.1:c.1212del XP_006711361.1:p.Phe404LeufsTer10
XM_006711299.2:c.1118del XP_006711362.1:p.Ser373Ter
XM_005245139.2:c.928del XP_005245196.1:p.Gln310LysfsTer?
XM_005245140.3:c.*5del XP_005245197.1:n.*5del
XM_006711298.2:c.1212del XP_006711361.1:p.Phe404LeufsTer10
XM_006711299.4:c.1118del XP_006711362.1:p.Ser373Ter
XM_017001199.2:c.1311del XP_016856688.1:p.Phe437LeufsTer10
XM_017001200.2:c.1263del XP_016856689.1:p.Phe421LeufsTer10
XM_017001201.2:c.*5del XP_016856690.1:n.*5del
NM_000565.4:c.1164del MANE Select NP_000556.1:p.Phe388LeufsTer10
NM_181359.3:c.1070del NP_852004.1:p.Ser357Ter
NM_001382769.1:c.1263del NP_001369698.1:p.Phe421LeufsTer10
NM_001382770.1:c.1257del NP_001369699.1:p.Phe419LeufsTer10
NM_001382771.1:c.1212del NP_001369700.1:p.Phe404LeufsTer10
NM_001382772.1:c.1158del NP_001369701.1:p.Phe386LeufsTer10
NM_001382773.1:c.1118del NP_001369702.1:p.Ser373Ter
NM_001382774.1:c.804del NP_001369703.1:p.Phe268LeufsTer10