Canonical Allele Identifier: CA1129299

Gene: IL6R

Linked Data

• dbSNP Id: rs780020436
• ExAC: 1:154437577 CTG / C
• gnomAD v2: 1-154437577-CTG-C
• gnomAD v3: 1-154465101-CTG-C
• gnomAD v4: 1-154465101-CTG-C
• MyVariant Identifiers: chr1:g.154437578_154437579del (hg19) ; chr1:g.154465102_154465103del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465106_154465107del , CM000663.2:g.154465106_154465107del	GRCh38
NC_000001.10:g.154437582_154437583del , CM000663.1:g.154437582_154437583del	GRCh37
NC_000001.9:g.152704206_152704207del	NCBI36
NG_012087.1:g.64914_64915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1161-28_1161-27del MANE Select	ENSP00000357470.3:n.1161-28_1161-27del
ENST00000344086.8:c.1067-28_1067-27del	ENSP00000340589.4:n.1067-28_1067-27del
ENST00000368485.7:c.1161-28_1161-27del	ENSP00000357470.3:n.1161-28_1161-27del
ENST00000502679.1:n.474-28_474-27del
ENST00000507256.1:n.359-28_359-27del
NM_000565.3:c.1161-28_1161-27del	NP_000556.1:n.1161-28_1161-27del
NM_181359.2:c.1067-28_1067-27del	NP_852004.1:n.1067-28_1067-27del
XM_005245139.1:c.925-28_925-27del	XP_005245196.1:n.925-28_925-27del
XM_005245140.1:c.*2-28_*2-27del	XP_005245197.1:n.*2-28_*2-27del
XM_006711298.1:c.1209-28_1209-27del	XP_006711361.1:n.1209-28_1209-27del
XM_006711299.2:c.1115-28_1115-27del	XP_006711362.1:n.1115-28_1115-27del
XM_005245139.2:c.925-28_925-27del	XP_005245196.1:n.925-28_925-27del
XM_005245140.3:c.*2-28_*2-27del	XP_005245197.1:n.*2-28_*2-27del
XM_006711298.2:c.1209-28_1209-27del	XP_006711361.1:n.1209-28_1209-27del
XM_006711299.4:c.1115-28_1115-27del	XP_006711362.1:n.1115-28_1115-27del
XM_017001199.2:c.1308-28_1308-27del	XP_016856688.1:n.1308-28_1308-27del
XM_017001200.2:c.1260-28_1260-27del	XP_016856689.1:n.1260-28_1260-27del
XM_017001201.2:c.*2-28_*2-27del	XP_016856690.1:n.*2-28_*2-27del
NM_000565.4:c.1161-28_1161-27del MANE Select	NP_000556.1:n.1161-28_1161-27del
NM_181359.3:c.1067-28_1067-27del	NP_852004.1:n.1067-28_1067-27del
NM_001382769.1:c.1260-28_1260-27del	NP_001369698.1:n.1260-28_1260-27del
NM_001382770.1:c.1254-28_1254-27del	NP_001369699.1:n.1254-28_1254-27del
NM_001382771.1:c.1209-28_1209-27del	NP_001369700.1:n.1209-28_1209-27del
NM_001382772.1:c.1155-28_1155-27del	NP_001369701.1:n.1155-28_1155-27del
NM_001382773.1:c.1115-28_1115-27del	NP_001369702.1:n.1115-28_1115-27del
NM_001382774.1:c.801-28_801-27del	NP_001369703.1:n.801-28_801-27del