Canonical Allele Identifier: CA2580092410
Gene: ANKRD11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1749354
ClinVar RCV Id: RCV002347754

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89280777_89280804del , CM000678.2:g.89280777_89280804del GRCh38
NC_000016.9:g.89347185_89347212del , CM000678.1:g.89347185_89347212del GRCh37
NC_000016.8:g.87874686_87874713del NCBI36
NG_032003.1:g.214759_214786del
NG_032003.2:g.214759_214786del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301030.10:c.5739_5766del MANE Select ENSP00000301030.4:p.Glu1915SerfsTer?
ENST00000330736.10:c.*5542_*5569del ENSP00000330815.5:n.*5542_*5569del
ENST00000378330.7:c.5739_5766del ENSP00000367581.2:p.Glu1915SerfsTer?
ENST00000642600.1:c.5739_5766del ENSP00000495226.1:p.Glu1915SerfsTer?
ENST00000644285.1:c.745-5612_745-5585del ENSP00000496476.1:n.745-5612_745-5585del
ENST00000301030.8:c.5739_5766del ENSP00000301030.4:p.Glu1915SerfsTer?
ENST00000330736.9:c.*5542_*5569del ENSP00000330815.5:n.*5542_*5569del
ENST00000378330.6:c.5739_5766del ENSP00000367581.2:p.Glu1915SerfsTer?
ENST00000562194.1:c.152-5612_152-5585del
NM_001256182.1:c.5739_5766del NP_001243111.1:p.Glu1915SerfsTer?
NM_001256183.1:c.5739_5766del NP_001243112.1:p.Glu1915SerfsTer?
NM_013275.5:c.5739_5766del NP_037407.4:p.Glu1915SerfsTer?
XM_006721181.1:c.5637_5664del XP_006721244.1:p.Glu1881SerfsTer?
XM_006721184.2:c.5442_5469del XP_006721247.1:p.Glu1816SerfsTer?
XM_011523051.1:c.5739_5766del XP_011521353.1:p.Glu1915SerfsTer?
XM_011523052.1:c.5739_5766del XP_011521354.1:p.Glu1915SerfsTer?
XM_011523053.1:c.5739_5766del XP_011521355.1:p.Glu1915SerfsTer?
XM_011523054.1:c.5637_5664del XP_011521356.1:p.Glu1881SerfsTer?
XM_011523055.1:c.5637_5664del XP_011521357.1:p.Glu1881SerfsTer?
XM_011523056.1:c.5610_5637del XP_011521358.1:p.Glu1872SerfsTer?
XM_011523057.1:c.5739_5766del XP_011521359.1:p.Glu1915SerfsTer?
XM_011523051.3:c.5739_5766del XP_011521353.1:p.Glu1915SerfsTer?
XM_011523053.2:c.5739_5766del XP_011521355.1:p.Glu1915SerfsTer?
XM_011523054.2:c.5637_5664del XP_011521356.1:p.Glu1881SerfsTer?
XM_011523055.2:c.5637_5664del XP_011521357.1:p.Glu1881SerfsTer?
XM_011523056.2:c.5610_5637del XP_011521358.1:p.Glu1872SerfsTer?
XM_011523057.2:c.5739_5766del XP_011521359.1:p.Glu1915SerfsTer?
XM_017023182.2:c.5739_5766del XP_016878671.1:p.Glu1915SerfsTer?
XM_017023183.1:c.5739_5766del XP_016878672.1:p.Glu1915SerfsTer?
XM_017023184.1:c.5739_5766del XP_016878673.1:p.Glu1915SerfsTer?
XM_017023185.1:c.5739_5766del XP_016878674.1:p.Glu1915SerfsTer?
XM_017023186.1:c.5739_5766del XP_016878675.1:p.Glu1915SerfsTer?
XM_017023187.1:c.5739_5766del XP_016878676.1:p.Glu1915SerfsTer?
XM_024450244.1:c.5637_5664del XP_024306012.1:p.Glu1881SerfsTer?
NM_013275.6:c.5739_5766del MANE Select NP_037407.4:p.Glu1915SerfsTer?
NM_001256182.2:c.5739_5766del NP_001243111.1:p.Glu1915SerfsTer?
NM_001256183.2:c.5739_5766del NP_001243112.1:p.Glu1915SerfsTer?