Canonical Allele Identifier: CA1129276

Gene: IL6R

Linked Data

• dbSNP Id: rs745414242
• ExAC: 1:154427010 A / AG
• gnomAD v2: 1-154427010-A-AG
• MyVariant Identifiers: chr1:g.154427010_154427011insG (hg19) ; chr1:g.154454534_154454535insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154454537dup , CM000663.2:g.154454537dup	GRCh38
NC_000001.10:g.154427013dup , CM000663.1:g.154427013dup	GRCh37
NC_000001.9:g.152693637dup	NCBI36
NG_012087.1:g.54345dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1116dup MANE Select	ENSP00000357470.3:p.Ser373GlufsTer?
ENST00000344086.8:c.1066+4557dup	ENSP00000340589.4:n.1066+4557dup
ENST00000368485.7:c.1116dup	ENSP00000357470.3:p.Ser373GlufsTer?
ENST00000502679.1:n.429dup
ENST00000507256.1:n.314dup
ENST00000515190.1:c.524dup
NM_000565.3:c.1116dup	NP_000556.1:p.Ser373GlufsTer?
NM_181359.2:c.1066+4557dup	NP_852004.1:n.1066+4557dup
XM_005245139.1:c.924+4557dup	XP_005245196.1:n.924+4557dup
XM_005245140.1:c.974dup	XP_005245197.1:p.Ala326SerfsTer?
XM_006711298.1:c.1164dup	XP_006711361.1:p.Ser389GlufsTer?
XM_006711299.2:c.1114+4557dup	XP_006711362.1:n.1114+4557dup
XM_005245139.2:c.924+4557dup	XP_005245196.1:n.924+4557dup
XM_005245140.3:c.974dup	XP_005245197.1:p.Ala326SerfsTer?
XM_006711298.2:c.1164dup	XP_006711361.1:p.Ser389GlufsTer?
XM_006711299.4:c.1114+4557dup	XP_006711362.1:n.1114+4557dup
XM_017001199.2:c.1263dup	XP_016856688.1:p.Ser422GlufsTer?
XM_017001200.2:c.1215dup	XP_016856689.1:p.Ser406GlufsTer?
XM_017001201.2:c.1073dup	XP_016856690.1:p.Ala359SerfsTer?
NM_000565.4:c.1116dup MANE Select	NP_000556.1:p.Ser373GlufsTer?
NM_181359.3:c.1066+4557dup	NP_852004.1:n.1066+4557dup
NM_001382769.1:c.1215dup	NP_001369698.1:p.Ser406GlufsTer?
NM_001382770.1:c.1209dup	NP_001369699.1:p.Ser404GlufsTer?
NM_001382771.1:c.1164dup	NP_001369700.1:p.Ser389GlufsTer?
NM_001382772.1:c.1110dup	NP_001369701.1:p.Ser371GlufsTer?
NM_001382773.1:c.1114+4557dup	NP_001369702.1:n.1114+4557dup
NM_001382774.1:c.756dup	NP_001369703.1:p.Ser253GlufsTer?