Canonical Allele Identifier: CA889597908

Gene: IL6R

Linked Data

• ClinVar Variation Id: 1960281
• ClinVar RCV Id: RCV002706400
• dbSNP Id: rs1275051565
• gnomAD v3: 1-154465103-GTGTGGTTTGTCTT-G
• gnomAD v4: 1-154465103-GTGTGGTTTGTCTT-G
• MyVariant Identifiers: chr1:g.154437580_154437592del (hg19) ; chr1:g.154465104_154465116del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465108_154465120del , CM000663.2:g.154465108_154465120del	GRCh38
NC_000001.10:g.154437584_154437596del , CM000663.1:g.154437584_154437596del	GRCh37
NC_000001.9:g.152704208_152704220del	NCBI36
NG_012087.1:g.64916_64928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1161-26_1161-14del MANE Select	ENSP00000357470.3:n.1161-26_1161-14del
ENST00000344086.8:c.1067-26_1067-14del	ENSP00000340589.4:n.1067-26_1067-14del
ENST00000368485.7:c.1161-26_1161-14del	ENSP00000357470.3:n.1161-26_1161-14del
ENST00000502679.1:n.474-26_474-14del
ENST00000507256.1:n.359-26_359-14del
NM_000565.3:c.1161-26_1161-14del	NP_000556.1:n.1161-26_1161-14del
NM_181359.2:c.1067-26_1067-14del	NP_852004.1:n.1067-26_1067-14del
XM_005245139.1:c.925-26_925-14del	XP_005245196.1:n.925-26_925-14del
XM_005245140.1:c.*2-26_*2-14del	XP_005245197.1:n.*2-26_*2-14del
XM_006711298.1:c.1209-26_1209-14del	XP_006711361.1:n.1209-26_1209-14del
XM_006711299.2:c.1115-26_1115-14del	XP_006711362.1:n.1115-26_1115-14del
XM_005245139.2:c.925-26_925-14del	XP_005245196.1:n.925-26_925-14del
XM_005245140.3:c.*2-26_*2-14del	XP_005245197.1:n.*2-26_*2-14del
XM_006711298.2:c.1209-26_1209-14del	XP_006711361.1:n.1209-26_1209-14del
XM_006711299.4:c.1115-26_1115-14del	XP_006711362.1:n.1115-26_1115-14del
XM_017001199.2:c.1308-26_1308-14del	XP_016856688.1:n.1308-26_1308-14del
XM_017001200.2:c.1260-26_1260-14del	XP_016856689.1:n.1260-26_1260-14del
XM_017001201.2:c.*2-26_*2-14del	XP_016856690.1:n.*2-26_*2-14del
NM_000565.4:c.1161-26_1161-14del MANE Select	NP_000556.1:n.1161-26_1161-14del
NM_181359.3:c.1067-26_1067-14del	NP_852004.1:n.1067-26_1067-14del
NM_001382769.1:c.1260-26_1260-14del	NP_001369698.1:n.1260-26_1260-14del
NM_001382770.1:c.1254-26_1254-14del	NP_001369699.1:n.1254-26_1254-14del
NM_001382771.1:c.1209-26_1209-14del	NP_001369700.1:n.1209-26_1209-14del
NM_001382772.1:c.1155-26_1155-14del	NP_001369701.1:n.1155-26_1155-14del
NM_001382773.1:c.1115-26_1115-14del	NP_001369702.1:n.1115-26_1115-14del
NM_001382774.1:c.801-26_801-14del	NP_001369703.1:n.801-26_801-14del