Canonical Allele Identifier: CA1129338

Gene: IL6R

Linked Data

• dbSNP Id: rs776495733
• ExAC: 1:154437739 ACCGGTGTCCC / A
• gnomAD v2: 1-154437739-ACCGGTGTCCC-A
• gnomAD v4: 1-154465263-ACCGGTGTCCC-A
• MyVariant Identifiers: chr1:g.154437740_154437749del (hg19) ; chr1:g.154465264_154465273del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465266_154465275del , CM000663.2:g.154465266_154465275del	GRCh38
NC_000001.10:g.154437742_154437751del , CM000663.1:g.154437742_154437751del	GRCh37
NC_000001.9:g.152704366_152704375del	NCBI36
NG_012087.1:g.65074_65083del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1293_1302del MANE Select	ENSP00000357470.3:p.Val432AlafsTer?
ENST00000344086.8:c.*101_*110del	ENSP00000340589.4:n.*101_*110del
ENST00000368485.7:c.1293_1302del	ENSP00000357470.3:p.Val432AlafsTer?
ENST00000507256.1:n.491_500del
NM_000565.3:c.1293_1302del	NP_000556.1:p.Val432AlafsTer?
NM_181359.2:c.*101_*110del	NP_852004.1:n.*101_*110del
XM_005245139.1:c.1057_1066del	XP_005245196.1:p.Gly353SerfsTer?
XM_005245140.1:c.*134_*143del	XP_005245197.1:n.*134_*143del
XM_006711298.1:c.1341_1350del	XP_006711361.1:p.Val448AlafsTer?
XM_005245139.2:c.1057_1066del	XP_005245196.1:p.Gly353SerfsTer?
XM_005245140.3:c.*134_*143del	XP_005245197.1:n.*134_*143del
XM_006711298.2:c.1341_1350del	XP_006711361.1:p.Val448AlafsTer?
XM_017001199.2:c.1440_1449del	XP_016856688.1:p.Val481AlafsTer?
XM_017001200.2:c.1392_1401del	XP_016856689.1:p.Val465AlafsTer?
XM_017001201.2:c.*134_*143del	XP_016856690.1:n.*134_*143del
NM_000565.4:c.1293_1302del MANE Select	NP_000556.1:p.Val432AlafsTer?
NM_181359.3:c.*101_*110del	NP_852004.1:n.*101_*110del
NM_001382769.1:c.1392_1401del	NP_001369698.1:p.Val465AlafsTer?
NM_001382770.1:c.1386_1395del	NP_001369699.1:p.Val463AlafsTer?
NM_001382771.1:c.1341_1350del	NP_001369700.1:p.Val448AlafsTer?
NM_001382772.1:c.1287_1296del	NP_001369701.1:p.Val430AlafsTer?
NM_001382773.1:c.*101_*110del	NP_001369702.1:n.*101_*110del
NM_001382774.1:c.933_942del	NP_001369703.1:p.Val312AlafsTer?