Canonical Allele Identifier: CA1007937840

Gene: IL6R

Linked Data

• dbSNP Id: rs1690753629
• gnomAD v3: 1-154454377-GTTCCT-G
• gnomAD v4: 1-154454377-GTTCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154454380_154454384del , CM000663.2:g.154454380_154454384del	GRCh38
NC_000001.10:g.154426856_154426860del , CM000663.1:g.154426856_154426860del	GRCh37
NC_000001.9:g.152693480_152693484del	NCBI36
NG_012087.1:g.54188_54192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1067-108_1067-104del MANE Select	ENSP00000357470.3:n.1067-108_1067-104del
ENST00000344086.8:c.1066+4400_1066+4404del	ENSP00000340589.4:n.1066+4400_1066+4404del
ENST00000368485.7:c.1067-108_1067-104del	ENSP00000357470.3:n.1067-108_1067-104del
ENST00000502679.1:n.272_276del
ENST00000507256.1:n.265-108_265-104del
ENST00000515190.1:c.475-108_475-104del
NM_000565.3:c.1067-108_1067-104del	NP_000556.1:n.1067-108_1067-104del
NM_181359.2:c.1066+4400_1066+4404del	NP_852004.1:n.1066+4400_1066+4404del
XM_005245139.1:c.924+4400_924+4404del	XP_005245196.1:n.924+4400_924+4404del
XM_005245140.1:c.925-108_925-104del	XP_005245197.1:n.925-108_925-104del
XM_006711298.1:c.1115-108_1115-104del	XP_006711361.1:n.1115-108_1115-104del
XM_006711299.2:c.1114+4400_1114+4404del	XP_006711362.1:n.1114+4400_1114+4404del
XM_005245139.2:c.924+4400_924+4404del	XP_005245196.1:n.924+4400_924+4404del
XM_005245140.3:c.925-108_925-104del	XP_005245197.1:n.925-108_925-104del
XM_006711298.2:c.1115-108_1115-104del	XP_006711361.1:n.1115-108_1115-104del
XM_006711299.4:c.1114+4400_1114+4404del	XP_006711362.1:n.1114+4400_1114+4404del
XM_017001199.2:c.1214-108_1214-104del	XP_016856688.1:n.1214-108_1214-104del
XM_017001200.2:c.1166-108_1166-104del	XP_016856689.1:n.1166-108_1166-104del
XM_017001201.2:c.1024-108_1024-104del	XP_016856690.1:n.1024-108_1024-104del
NM_000565.4:c.1067-108_1067-104del MANE Select	NP_000556.1:n.1067-108_1067-104del
NM_181359.3:c.1066+4400_1066+4404del	NP_852004.1:n.1066+4400_1066+4404del
NM_001382769.1:c.1166-108_1166-104del	NP_001369698.1:n.1166-108_1166-104del
NM_001382770.1:c.1160-108_1160-104del	NP_001369699.1:n.1160-108_1160-104del
NM_001382771.1:c.1115-108_1115-104del	NP_001369700.1:n.1115-108_1115-104del
NM_001382772.1:c.1061-108_1061-104del	NP_001369701.1:n.1061-108_1061-104del
NM_001382773.1:c.1114+4400_1114+4404del	NP_001369702.1:n.1114+4400_1114+4404del
NM_001382774.1:c.707-108_707-104del	NP_001369703.1:n.707-108_707-104del