Canonical Allele Identifier: CA16043097
Gene: ANKRD11 HGNC NCBI

Linked Data

ClinVar Variation Id: 373733
ClinVar RCV Id: RCV000413140
dbSNP Id: rs1057518578

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89281512_89281513del , CM000678.2:g.89281512_89281513del GRCh38
NC_000016.9:g.89347920_89347921del , CM000678.1:g.89347920_89347921del GRCh37
NC_000016.8:g.87875421_87875422del NCBI36
NG_032003.1:g.214050_214051del
NG_032003.2:g.214050_214051del

Transcript Alleles

HGVS Amino-acid change
ENST00000301030.10:c.5030_5031del MANE Select ENSP00000301030.4:p.Lys1677ArgfsTer19
ENST00000330736.10:c.*4833_*4834del ENSP00000330815.5:n.*4833_*4834del
ENST00000378330.7:c.5030_5031del ENSP00000367581.2:p.Lys1677ArgfsTer19
ENST00000642600.1:c.5030_5031del ENSP00000495226.1:p.Lys1677ArgfsTer19
ENST00000644285.1:c.745-6321_745-6320del ENSP00000496476.1:n.745-6321_745-6320del
ENST00000301030.8:c.5030_5031del ENSP00000301030.4:p.Lys1677ArgfsTer19
ENST00000330736.9:c.*4833_*4834del ENSP00000330815.5:n.*4833_*4834del
ENST00000378330.6:c.5030_5031del ENSP00000367581.2:p.Lys1677ArgfsTer19
ENST00000562194.1:c.152-6321_152-6320del
NM_001256182.1:c.5030_5031del NP_001243111.1:p.Lys1677ArgfsTer19
NM_001256183.1:c.5030_5031del NP_001243112.1:p.Lys1677ArgfsTer19
NM_013275.5:c.5030_5031del NP_037407.4:p.Lys1677ArgfsTer19
XM_006721181.1:c.4928_4929del XP_006721244.1:p.Lys1643ArgfsTer19
XM_006721184.2:c.4733_4734del XP_006721247.1:p.Lys1578ArgfsTer19
XM_011523051.1:c.5030_5031del XP_011521353.1:p.Lys1677ArgfsTer19
XM_011523052.1:c.5030_5031del XP_011521354.1:p.Lys1677ArgfsTer19
XM_011523053.1:c.5030_5031del XP_011521355.1:p.Lys1677ArgfsTer19
XM_011523054.1:c.4928_4929del XP_011521356.1:p.Lys1643ArgfsTer19
XM_011523055.1:c.4928_4929del XP_011521357.1:p.Lys1643ArgfsTer19
XM_011523056.1:c.4901_4902del XP_011521358.1:p.Lys1634ArgfsTer19
XM_011523057.1:c.5030_5031del XP_011521359.1:p.Lys1677ArgfsTer19
XM_011523051.3:c.5030_5031del XP_011521353.1:p.Lys1677ArgfsTer19
XM_011523053.2:c.5030_5031del XP_011521355.1:p.Lys1677ArgfsTer19
XM_011523054.2:c.4928_4929del XP_011521356.1:p.Lys1643ArgfsTer19
XM_011523055.2:c.4928_4929del XP_011521357.1:p.Lys1643ArgfsTer19
XM_011523056.2:c.4901_4902del XP_011521358.1:p.Lys1634ArgfsTer19
XM_011523057.2:c.5030_5031del XP_011521359.1:p.Lys1677ArgfsTer19
XM_017023182.2:c.5030_5031del XP_016878671.1:p.Lys1677ArgfsTer19
XM_017023183.1:c.5030_5031del XP_016878672.1:p.Lys1677ArgfsTer19
XM_017023184.1:c.5030_5031del XP_016878673.1:p.Lys1677ArgfsTer19
XM_017023185.1:c.5030_5031del XP_016878674.1:p.Lys1677ArgfsTer19
XM_017023186.1:c.5030_5031del XP_016878675.1:p.Lys1677ArgfsTer19
XM_017023187.1:c.5030_5031del XP_016878676.1:p.Lys1677ArgfsTer19
XM_024450244.1:c.4928_4929del XP_024306012.1:p.Lys1643ArgfsTer19
NM_013275.6:c.5030_5031del MANE Select NP_037407.4:p.Lys1677ArgfsTer19
NM_001256182.2:c.5030_5031del NP_001243111.1:p.Lys1677ArgfsTer19
NM_001256183.2:c.5030_5031del NP_001243112.1:p.Lys1677ArgfsTer19