Canonical Allele Identifier: CA30809646

Gene: IL6R

Linked Data

• dbSNP Id: rs537961306
• gnomAD v3: 1-154454277-GAAACAAAC-G
• gnomAD v4: 1-154454277-GAAACAAAC-G
• MyVariant Identifiers: chr1:g.154426754_154426761del (hg19) ; chr1:g.154454278_154454285del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154454293_154454300del , CM000663.2:g.154454293_154454300del	GRCh38
NC_000001.10:g.154426769_154426776del , CM000663.1:g.154426769_154426776del	GRCh37
NC_000001.9:g.152693393_152693400del	NCBI36
NG_012087.1:g.54101_54108del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1067-195_1067-188del MANE Select	ENSP00000357470.3:n.1067-195_1067-188del
ENST00000344086.8:c.1066+4313_1066+4320del	ENSP00000340589.4:n.1066+4313_1066+4320del
ENST00000368485.7:c.1067-195_1067-188del	ENSP00000357470.3:n.1067-195_1067-188del
ENST00000502679.1:n.185_192del
ENST00000507256.1:n.265-195_265-188del
ENST00000515190.1:c.475-195_475-188del
NM_000565.3:c.1067-195_1067-188del	NP_000556.1:n.1067-195_1067-188del
NM_181359.2:c.1066+4313_1066+4320del	NP_852004.1:n.1066+4313_1066+4320del
XM_005245139.1:c.924+4313_924+4320del	XP_005245196.1:n.924+4313_924+4320del
XM_005245140.1:c.925-195_925-188del	XP_005245197.1:n.925-195_925-188del
XM_006711298.1:c.1115-195_1115-188del	XP_006711361.1:n.1115-195_1115-188del
XM_006711299.2:c.1114+4313_1114+4320del	XP_006711362.1:n.1114+4313_1114+4320del
XM_005245139.2:c.924+4313_924+4320del	XP_005245196.1:n.924+4313_924+4320del
XM_005245140.3:c.925-195_925-188del	XP_005245197.1:n.925-195_925-188del
XM_006711298.2:c.1115-195_1115-188del	XP_006711361.1:n.1115-195_1115-188del
XM_006711299.4:c.1114+4313_1114+4320del	XP_006711362.1:n.1114+4313_1114+4320del
XM_017001199.2:c.1213+122_1213+129del	XP_016856688.1:n.1213+122_1213+129del
XM_017001200.2:c.1165+122_1165+129del	XP_016856689.1:n.1165+122_1165+129del
XM_017001201.2:c.1023+122_1023+129del	XP_016856690.1:n.1023+122_1023+129del
NM_000565.4:c.1067-195_1067-188del MANE Select	NP_000556.1:n.1067-195_1067-188del
NM_181359.3:c.1066+4313_1066+4320del	NP_852004.1:n.1066+4313_1066+4320del
NM_001382769.1:c.1165+122_1165+129del	NP_001369698.1:n.1165+122_1165+129del
NM_001382770.1:c.1160-195_1160-188del	NP_001369699.1:n.1160-195_1160-188del
NM_001382771.1:c.1115-195_1115-188del	NP_001369700.1:n.1115-195_1115-188del
NM_001382772.1:c.1061-195_1061-188del	NP_001369701.1:n.1061-195_1061-188del
NM_001382773.1:c.1114+4313_1114+4320del	NP_001369702.1:n.1114+4313_1114+4320del
NM_001382774.1:c.707-195_707-188del	NP_001369703.1:n.707-195_707-188del