Canonical Allele Identifier: CA2648156609

Gene: IL6R

Linked Data

• gnomAD v4: 1-154454488-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154454489del , CM000663.2:g.154454489del	GRCh38
NC_000001.10:g.154426965del , CM000663.1:g.154426965del	GRCh37
NC_000001.9:g.152693589del	NCBI36
NG_012087.1:g.54297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1068del MANE Select	ENSP00000357470.3:p.Gln357LysfsTer?
ENST00000344086.8:c.1066+4509del	ENSP00000340589.4:n.1066+4509del
ENST00000368485.7:c.1068del	ENSP00000357470.3:p.Gln357LysfsTer?
ENST00000502679.1:n.381del
ENST00000507256.1:n.266del
ENST00000515190.1:c.476del
NM_000565.3:c.1068del	NP_000556.1:p.Gln357LysfsTer?
NM_181359.2:c.1066+4509del	NP_852004.1:n.1066+4509del
XM_005245139.1:c.924+4509del	XP_005245196.1:n.924+4509del
XM_005245140.1:c.926del	XP_005245197.1:p.Cys309SerfsTer?
XM_006711298.1:c.1116del	XP_006711361.1:p.Gln373LysfsTer?
XM_006711299.2:c.1114+4509del	XP_006711362.1:n.1114+4509del
XM_005245139.2:c.924+4509del	XP_005245196.1:n.924+4509del
XM_005245140.3:c.926del	XP_005245197.1:p.Cys309SerfsTer?
XM_006711298.2:c.1116del	XP_006711361.1:p.Gln373LysfsTer?
XM_006711299.4:c.1114+4509del	XP_006711362.1:n.1114+4509del
XM_017001199.2:c.1215del	XP_016856688.1:p.Met405IlefsTer?
XM_017001200.2:c.1167del	XP_016856689.1:p.Met389IlefsTer?
XM_017001201.2:c.1025del	XP_016856690.1:p.Cys342SerfsTer?
NM_000565.4:c.1068del MANE Select	NP_000556.1:p.Gln357LysfsTer?
NM_181359.3:c.1066+4509del	NP_852004.1:n.1066+4509del
NM_001382769.1:c.1167del	NP_001369698.1:p.Met389IlefsTer?
NM_001382770.1:c.1161del	NP_001369699.1:p.Gln388LysfsTer?
NM_001382771.1:c.1116del	NP_001369700.1:p.Gln373LysfsTer?
NM_001382772.1:c.1062del	NP_001369701.1:p.Gln355LysfsTer?
NM_001382773.1:c.1114+4509del	NP_001369702.1:n.1114+4509del
NM_001382774.1:c.708del	NP_001369703.1:p.Gln237LysfsTer?