Canonical Allele Identifier: CA2697500754

Gene: IL6R

Linked Data

• dbSNP Id: rs2149280459

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465165_154465167del , CM000663.2:g.154465165_154465167del	GRCh38
NC_000001.10:g.154437641_154437643del , CM000663.1:g.154437641_154437643del	GRCh37
NC_000001.9:g.152704265_152704267del	NCBI36
NG_012087.1:g.64973_64975del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1192_1194del MANE Select	ENSP00000357470.3:p.Lys398del
ENST00000344086.8:c.1098_*2del	ENSP00000340589.4:n.[c.1098_*2del;Ter366TrpextTer?]
ENST00000368485.7:c.1192_1194del	ENSP00000357470.3:p.Lys398del
ENST00000502679.1:n.505_507del
ENST00000507256.1:n.390_392del
NM_000565.3:c.1192_1194del	NP_000556.1:p.Lys398del
NM_181359.2:c.1098_*2del	NP_852004.1:n.[c.1098_*2del;Ter366TrpextTer?]
XM_005245139.1:c.956_958del	XP_005245196.1:p.Glu319del
XM_005245140.1:c.*33_*35del	XP_005245197.1:n.*33_*35del
XM_006711298.1:c.1240_1242del	XP_006711361.1:p.Lys414del
XM_006711299.2:c.1146_*2del	XP_006711362.1:n.[c.1146_*2del;Ter382TrpextTer?]
XM_005245139.2:c.956_958del	XP_005245196.1:p.Glu319del
XM_005245140.3:c.*33_*35del	XP_005245197.1:n.*33_*35del
XM_006711298.2:c.1240_1242del	XP_006711361.1:p.Lys414del
XM_006711299.4:c.1146_*2del	XP_006711362.1:n.[c.1146_*2del;Ter382TrpextTer?]
XM_017001199.2:c.1339_1341del	XP_016856688.1:p.Lys447del
XM_017001200.2:c.1291_1293del	XP_016856689.1:p.Lys431del
XM_017001201.2:c.*33_*35del	XP_016856690.1:n.*33_*35del
NM_000565.4:c.1192_1194del MANE Select	NP_000556.1:p.Lys398del
NM_181359.3:c.1098_*2del	NP_852004.1:n.[c.1098_*2del;Ter366TrpextTer?]
NM_001382769.1:c.1291_1293del	NP_001369698.1:p.Lys431del
NM_001382770.1:c.1285_1287del	NP_001369699.1:p.Lys429del
NM_001382771.1:c.1240_1242del	NP_001369700.1:p.Lys414del
NM_001382772.1:c.1186_1188del	NP_001369701.1:p.Lys396del
NM_001382773.1:c.1146_*2del	NP_001369702.1:n.[c.1146_*2del;Ter382TrpextTer?]
NM_001382774.1:c.832_834del	NP_001369703.1:p.Lys278del