Canonical Allele Identifier: CA30816650

Gene: IL6R

Linked Data

• dbSNP Id: rs897620451
• gnomAD v3: 1-154465360-GA-G
• gnomAD v4: 1-154465360-GA-G
• MyVariant Identifiers: chr1:g.154437837del (hg19) ; chr1:g.154465361del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465361del , CM000663.2:g.154465361del	GRCh38
NC_000001.10:g.154437837del , CM000663.1:g.154437837del	GRCh37
NC_000001.9:g.152704461del	NCBI36
NG_012087.1:g.65169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1388del MANE Select	ENSP00000357470.3:p.Asp463AlafsTer?
ENST00000344086.8:c.*196del	ENSP00000340589.4:n.*196del
ENST00000368485.7:c.1388del	ENSP00000357470.3:p.Asp463AlafsTer?
NM_000565.3:c.1388del	NP_000556.1:p.Asp463AlafsTer?
NM_181359.2:c.*196del	NP_852004.1:n.*196del
XM_005245139.1:c.*69del	XP_005245196.1:n.*69del
XM_005245140.1:c.*229del	XP_005245197.1:n.*229del
XM_006711298.1:c.1436del	XP_006711361.1:p.Asp479AlafsTer?
XM_005245139.2:c.*69del	XP_005245196.1:n.*69del
XM_005245140.3:c.*229del	XP_005245197.1:n.*229del
XM_006711298.2:c.1436del	XP_006711361.1:p.Asp479AlafsTer?
XM_017001199.2:c.1535del	XP_016856688.1:p.Asp512AlafsTer?
XM_017001200.2:c.1487del	XP_016856689.1:p.Asp496AlafsTer?
XM_017001201.2:c.*229del	XP_016856690.1:n.*229del
NM_000565.4:c.1388del MANE Select	NP_000556.1:p.Asp463AlafsTer?
NM_181359.3:c.*196del	NP_852004.1:n.*196del
NM_001382769.1:c.1487del	NP_001369698.1:p.Asp496AlafsTer?
NM_001382770.1:c.1481del	NP_001369699.1:p.Asp494AlafsTer?
NM_001382771.1:c.1436del	NP_001369700.1:p.Asp479AlafsTer?
NM_001382772.1:c.1382del	NP_001369701.1:p.Asp461AlafsTer?
NM_001382773.1:c.*196del	NP_001369702.1:n.*196del
NM_001382774.1:c.1028del	NP_001369703.1:p.Asp343AlafsTer?