Canonical Allele Identifier: CA2480880331
Gene: IL6R HGNC NCBI

Linked Data

dbSNP Id: rs1691503325

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154465317del , CM000663.2:g.154465317del GRCh38
NC_000001.10:g.154437793del , CM000663.1:g.154437793del GRCh37
NC_000001.9:g.152704417del NCBI36
NG_012087.1:g.65125del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368485.8:c.1344del MANE Select ENSP00000357470.3:p.Asp449MetfsTer?
ENST00000344086.8:c.*152del ENSP00000340589.4:n.*152del
ENST00000368485.7:c.1344del ENSP00000357470.3:p.Asp449MetfsTer?
NM_000565.3:c.1344del NP_000556.1:p.Asp449MetfsTer?
NM_181359.2:c.*152del NP_852004.1:n.*152del
XM_005245139.1:c.*25del XP_005245196.1:n.*25del
XM_005245140.1:c.*185del XP_005245197.1:n.*185del
XM_006711298.1:c.1392del XP_006711361.1:p.Asp465MetfsTer?
XM_005245139.2:c.*25del XP_005245196.1:n.*25del
XM_005245140.3:c.*185del XP_005245197.1:n.*185del
XM_006711298.2:c.1392del XP_006711361.1:p.Asp465MetfsTer?
XM_017001199.2:c.1491del XP_016856688.1:p.Asp498MetfsTer?
XM_017001200.2:c.1443del XP_016856689.1:p.Asp482MetfsTer?
XM_017001201.2:c.*185del XP_016856690.1:n.*185del
NM_000565.4:c.1344del MANE Select NP_000556.1:p.Asp449MetfsTer?
NM_181359.3:c.*152del NP_852004.1:n.*152del
NM_001382769.1:c.1443del NP_001369698.1:p.Asp482MetfsTer?
NM_001382770.1:c.1437del NP_001369699.1:p.Asp480MetfsTer?
NM_001382771.1:c.1392del NP_001369700.1:p.Asp465MetfsTer?
NM_001382772.1:c.1338del NP_001369701.1:p.Asp447MetfsTer?
NM_001382773.1:c.*152del NP_001369702.1:n.*152del
NM_001382774.1:c.984del NP_001369703.1:p.Asp329MetfsTer?