Canonical Allele Identifier: CA2648156786

Gene: IL6R

Linked Data

• gnomAD v4: 1-154465234-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465238dup , CM000663.2:g.154465238dup	GRCh38
NC_000001.10:g.154437714dup , CM000663.1:g.154437714dup	GRCh37
NC_000001.9:g.152704338dup	NCBI36
NG_012087.1:g.65046dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1265dup MANE Select	ENSP00000357470.3:p.Val423SerfsTer18
ENST00000344086.8:c.*73dup	ENSP00000340589.4:n.*73dup
ENST00000368485.7:c.1265dup	ENSP00000357470.3:p.Val423SerfsTer18
ENST00000502679.1:n.578dup
ENST00000507256.1:n.463dup
NM_000565.3:c.1265dup	NP_000556.1:p.Val423SerfsTer18
NM_181359.2:c.*73dup	NP_852004.1:n.*73dup
XM_005245139.1:c.1029dup	XP_005245196.1:p.Ser344GlnfsTer?
XM_005245140.1:c.*106dup	XP_005245197.1:n.*106dup
XM_006711298.1:c.1313dup	XP_006711361.1:p.Val439SerfsTer18
XM_006711299.2:c.*73dup	XP_006711362.1:n.*73dup
XM_005245139.2:c.1029dup	XP_005245196.1:p.Ser344GlnfsTer?
XM_005245140.3:c.*106dup	XP_005245197.1:n.*106dup
XM_006711298.2:c.1313dup	XP_006711361.1:p.Val439SerfsTer18
XM_006711299.4:c.*73dup	XP_006711362.1:n.*73dup
XM_017001199.2:c.1412dup	XP_016856688.1:p.Val472SerfsTer18
XM_017001200.2:c.1364dup	XP_016856689.1:p.Val456SerfsTer18
XM_017001201.2:c.*106dup	XP_016856690.1:n.*106dup
NM_000565.4:c.1265dup MANE Select	NP_000556.1:p.Val423SerfsTer18
NM_181359.3:c.*73dup	NP_852004.1:n.*73dup
NM_001382769.1:c.1364dup	NP_001369698.1:p.Val456SerfsTer18
NM_001382770.1:c.1358dup	NP_001369699.1:p.Val454SerfsTer18
NM_001382771.1:c.1313dup	NP_001369700.1:p.Val439SerfsTer18
NM_001382772.1:c.1259dup	NP_001369701.1:p.Val421SerfsTer18
NM_001382773.1:c.*73dup	NP_001369702.1:n.*73dup
NM_001382774.1:c.905dup	NP_001369703.1:p.Val303SerfsTer18