Canonical Allele Identifier: CA1139664889

Gene: ANKRD11

Linked Data

• ClinVar Variation Id: 973132
• ClinVar RCV Id: RCV001249511
• dbSNP Id: rs2034490973

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89284280_89284283del , CM000678.2:g.89284280_89284283del	GRCh38
NC_000016.9:g.89350688_89350691del , CM000678.1:g.89350688_89350691del	GRCh37
NC_000016.8:g.87878189_87878192del	NCBI36
NG_032003.1:g.211282_211285del
NG_032003.2:g.211282_211285del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301030.10:c.2262_2265del MANE Select	ENSP00000301030.4:p.Glu755LysfsTer3
ENST00000330736.10:c.*2065_*2068del	ENSP00000330815.5:n.*2065_*2068del
ENST00000378330.7:c.2262_2265del	ENSP00000367581.2:p.Glu755LysfsTer3
ENST00000642443.1:c.1887_1890del	ENSP00000493644.1:p.Glu630LysfsTer3
ENST00000642600.1:c.2262_2265del	ENSP00000495226.1:p.Glu755LysfsTer3
ENST00000644285.1:c.744+4248_744+4251del	ENSP00000496476.1:n.744+4248_744+4251del
ENST00000645212.1:n.4034_4037del
ENST00000301030.8:c.2262_2265del	ENSP00000301030.4:p.Glu755LysfsTer3
ENST00000330736.9:c.*2065_*2068del	ENSP00000330815.5:n.*2065_*2068del
ENST00000378330.6:c.2262_2265del	ENSP00000367581.2:p.Glu755LysfsTer3
ENST00000562194.1:c.151+4248_151+4251del
NM_001256182.1:c.2262_2265del	NP_001243111.1:p.Glu755LysfsTer3
NM_001256183.1:c.2262_2265del	NP_001243112.1:p.Glu755LysfsTer3
NM_013275.5:c.2262_2265del	NP_037407.4:p.Glu755LysfsTer3
XM_006721181.1:c.2160_2163del	XP_006721244.1:p.Glu721LysfsTer3
XM_006721184.2:c.1965_1968del	XP_006721247.1:p.Glu656LysfsTer3
XM_011523051.1:c.2262_2265del	XP_011521353.1:p.Glu755LysfsTer3
XM_011523052.1:c.2262_2265del	XP_011521354.1:p.Glu755LysfsTer3
XM_011523053.1:c.2262_2265del	XP_011521355.1:p.Glu755LysfsTer3
XM_011523054.1:c.2160_2163del	XP_011521356.1:p.Glu721LysfsTer3
XM_011523055.1:c.2160_2163del	XP_011521357.1:p.Glu721LysfsTer3
XM_011523056.1:c.2133_2136del	XP_011521358.1:p.Glu712LysfsTer3
XM_011523057.1:c.2262_2265del	XP_011521359.1:p.Glu755LysfsTer3
XM_011523051.3:c.2262_2265del	XP_011521353.1:p.Glu755LysfsTer3
XM_011523053.2:c.2262_2265del	XP_011521355.1:p.Glu755LysfsTer3
XM_011523054.2:c.2160_2163del	XP_011521356.1:p.Glu721LysfsTer3
XM_011523055.2:c.2160_2163del	XP_011521357.1:p.Glu721LysfsTer3
XM_011523056.2:c.2133_2136del	XP_011521358.1:p.Glu712LysfsTer3
XM_011523057.2:c.2262_2265del	XP_011521359.1:p.Glu755LysfsTer3
XM_017023182.2:c.2262_2265del	XP_016878671.1:p.Glu755LysfsTer3
XM_017023183.1:c.2262_2265del	XP_016878672.1:p.Glu755LysfsTer3
XM_017023184.1:c.2262_2265del	XP_016878673.1:p.Glu755LysfsTer3
XM_017023185.1:c.2262_2265del	XP_016878674.1:p.Glu755LysfsTer3
XM_017023186.1:c.2262_2265del	XP_016878675.1:p.Glu755LysfsTer3
XM_017023187.1:c.2262_2265del	XP_016878676.1:p.Glu755LysfsTer3
XM_024450244.1:c.2160_2163del	XP_024306012.1:p.Glu721LysfsTer3
NM_013275.6:c.2262_2265del MANE Select	NP_037407.4:p.Glu755LysfsTer3
NM_001256182.2:c.2262_2265del	NP_001243111.1:p.Glu755LysfsTer3
NM_001256183.2:c.2262_2265del	NP_001243112.1:p.Glu755LysfsTer3