Canonical Allele Identifier: CA2746186212

Gene: IL6R

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465285_154465291del , CM000663.2:g.154465285_154465291del	GRCh38
NC_000001.10:g.154437761_154437767del , CM000663.1:g.154437761_154437767del	GRCh37
NC_000001.9:g.152704385_152704391del	NCBI36
NG_012087.1:g.65093_65099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1312_1318del MANE Select	ENSP00000357470.3:p.Gly438ThrfsTer?
ENST00000344086.8:c.*120_*126del	ENSP00000340589.4:n.*120_*126del
ENST00000368485.7:c.1312_1318del	ENSP00000357470.3:p.Gly438ThrfsTer?
ENST00000507256.1:n.510_516del
NM_000565.3:c.1312_1318del	NP_000556.1:p.Gly438ThrfsTer?
NM_181359.2:c.*120_*126del	NP_852004.1:n.*120_*126del
XM_005245139.1:c.1076_1082del	XP_005245196.1:p.Gly359AspfsTer30
XM_005245140.1:c.*153_*159del	XP_005245197.1:n.*153_*159del
XM_006711298.1:c.1360_1366del	XP_006711361.1:p.Gly454ThrfsTer?
XM_005245139.2:c.1076_1082del	XP_005245196.1:p.Gly359AspfsTer30
XM_005245140.3:c.*153_*159del	XP_005245197.1:n.*153_*159del
XM_006711298.2:c.1360_1366del	XP_006711361.1:p.Gly454ThrfsTer?
XM_017001199.2:c.1459_1465del	XP_016856688.1:p.Gly487ThrfsTer?
XM_017001200.2:c.1411_1417del	XP_016856689.1:p.Gly471ThrfsTer?
XM_017001201.2:c.*153_*159del	XP_016856690.1:n.*153_*159del
NM_000565.4:c.1312_1318del MANE Select	NP_000556.1:p.Gly438ThrfsTer?
NM_181359.3:c.*120_*126del	NP_852004.1:n.*120_*126del
NM_001382769.1:c.1411_1417del	NP_001369698.1:p.Gly471ThrfsTer?
NM_001382770.1:c.1405_1411del	NP_001369699.1:p.Gly469ThrfsTer?
NM_001382771.1:c.1360_1366del	NP_001369700.1:p.Gly454ThrfsTer?
NM_001382772.1:c.1306_1312del	NP_001369701.1:p.Gly436ThrfsTer?
NM_001382773.1:c.*120_*126del	NP_001369702.1:n.*120_*126del
NM_001382774.1:c.952_958del	NP_001369703.1:p.Gly318ThrfsTer?