Canonical Allele Identifier: CA2648156785

Gene: IL6R

Linked Data

• gnomAD v4: 1-154465194-GTAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465196_154465198del , CM000663.2:g.154465196_154465198del	GRCh38
NC_000001.10:g.154437672_154437674del , CM000663.1:g.154437672_154437674del	GRCh37
NC_000001.9:g.152704296_152704298del	NCBI36
NG_012087.1:g.65004_65006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1223_1225del MANE Select	ENSP00000357470.3:p.Tyr408del
ENST00000344086.8:c.*31_*33del	ENSP00000340589.4:n.*31_*33del
ENST00000368485.7:c.1223_1225del	ENSP00000357470.3:p.Tyr408del
ENST00000502679.1:n.536_538del
ENST00000507256.1:n.421_423del
NM_000565.3:c.1223_1225del	NP_000556.1:p.Tyr408del
NM_181359.2:c.*31_*33del	NP_852004.1:n.*31_*33del
XM_005245139.1:c.987_989del	XP_005245196.1:p.Leu330del
XM_005245140.1:c.*64_*66del	XP_005245197.1:n.*64_*66del
XM_006711298.1:c.1271_1273del	XP_006711361.1:p.Tyr424del
XM_006711299.2:c.*31_*33del	XP_006711362.1:n.*31_*33del
XM_005245139.2:c.987_989del	XP_005245196.1:p.Leu330del
XM_005245140.3:c.*64_*66del	XP_005245197.1:n.*64_*66del
XM_006711298.2:c.1271_1273del	XP_006711361.1:p.Tyr424del
XM_006711299.4:c.*31_*33del	XP_006711362.1:n.*31_*33del
XM_017001199.2:c.1370_1372del	XP_016856688.1:p.Tyr457del
XM_017001200.2:c.1322_1324del	XP_016856689.1:p.Tyr441del
XM_017001201.2:c.*64_*66del	XP_016856690.1:n.*64_*66del
NM_000565.4:c.1223_1225del MANE Select	NP_000556.1:p.Tyr408del
NM_181359.3:c.*31_*33del	NP_852004.1:n.*31_*33del
NM_001382769.1:c.1322_1324del	NP_001369698.1:p.Tyr441del
NM_001382770.1:c.1316_1318del	NP_001369699.1:p.Tyr439del
NM_001382771.1:c.1271_1273del	NP_001369700.1:p.Tyr424del
NM_001382772.1:c.1217_1219del	NP_001369701.1:p.Tyr406del
NM_001382773.1:c.*31_*33del	NP_001369702.1:n.*31_*33del
NM_001382774.1:c.863_865del	NP_001369703.1:p.Tyr288del