Canonical Allele Identifier: CA16620307
Gene: ANKRD11 HGNC NCBI

Linked Data

ClinVar Variation Id: 420179
dbSNP Id: rs1064794330

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89283319_89283322del , CM000678.2:g.89283319_89283322del GRCh38
NC_000016.9:g.89349727_89349730del , CM000678.1:g.89349727_89349730del GRCh37
NC_000016.8:g.87877228_87877231del NCBI36
NG_032003.1:g.212244_212247del
NG_032003.2:g.212244_212247del

Transcript Alleles

HGVS Amino-acid change
ENST00000301030.10:c.3224_3227del MANE Select ENSP00000301030.4:p.Glu1075GlyfsTer?
ENST00000330736.10:c.*3027_*3030del ENSP00000330815.5:n.*3027_*3030del
ENST00000378330.7:c.3224_3227del ENSP00000367581.2:p.Glu1075GlyfsTer?
ENST00000642600.1:c.3224_3227del ENSP00000495226.1:p.Glu1075GlyfsTer?
ENST00000644285.1:c.744+5210_744+5213del ENSP00000496476.1:n.744+5210_744+5213del
ENST00000301030.8:c.3224_3227del ENSP00000301030.4:p.Glu1075GlyfsTer?
ENST00000330736.9:c.*3027_*3030del ENSP00000330815.5:n.*3027_*3030del
ENST00000378330.6:c.3224_3227del ENSP00000367581.2:p.Glu1075GlyfsTer?
ENST00000562194.1:c.151+5210_151+5213del
NM_001256182.1:c.3224_3227del NP_001243111.1:p.Glu1075GlyfsTer?
NM_001256183.1:c.3224_3227del NP_001243112.1:p.Glu1075GlyfsTer?
NM_013275.5:c.3224_3227del NP_037407.4:p.Glu1075GlyfsTer?
XM_006721181.1:c.3122_3125del XP_006721244.1:p.Glu1041GlyfsTer?
XM_006721184.2:c.2927_2930del XP_006721247.1:p.Glu976GlyfsTer?
XM_011523051.1:c.3224_3227del XP_011521353.1:p.Glu1075GlyfsTer?
XM_011523052.1:c.3224_3227del XP_011521354.1:p.Glu1075GlyfsTer?
XM_011523053.1:c.3224_3227del XP_011521355.1:p.Glu1075GlyfsTer?
XM_011523054.1:c.3122_3125del XP_011521356.1:p.Glu1041GlyfsTer?
XM_011523055.1:c.3122_3125del XP_011521357.1:p.Glu1041GlyfsTer?
XM_011523056.1:c.3095_3098del XP_011521358.1:p.Glu1032GlyfsTer?
XM_011523057.1:c.3224_3227del XP_011521359.1:p.Glu1075GlyfsTer?
XM_011523051.3:c.3224_3227del XP_011521353.1:p.Glu1075GlyfsTer?
XM_011523053.2:c.3224_3227del XP_011521355.1:p.Glu1075GlyfsTer?
XM_011523054.2:c.3122_3125del XP_011521356.1:p.Glu1041GlyfsTer?
XM_011523055.2:c.3122_3125del XP_011521357.1:p.Glu1041GlyfsTer?
XM_011523056.2:c.3095_3098del XP_011521358.1:p.Glu1032GlyfsTer?
XM_011523057.2:c.3224_3227del XP_011521359.1:p.Glu1075GlyfsTer?
XM_017023182.2:c.3224_3227del XP_016878671.1:p.Glu1075GlyfsTer?
XM_017023183.1:c.3224_3227del XP_016878672.1:p.Glu1075GlyfsTer?
XM_017023184.1:c.3224_3227del XP_016878673.1:p.Glu1075GlyfsTer?
XM_017023185.1:c.3224_3227del XP_016878674.1:p.Glu1075GlyfsTer?
XM_017023186.1:c.3224_3227del XP_016878675.1:p.Glu1075GlyfsTer?
XM_017023187.1:c.3224_3227del XP_016878676.1:p.Glu1075GlyfsTer?
XM_024450244.1:c.3122_3125del XP_024306012.1:p.Glu1041GlyfsTer?
NM_013275.6:c.3224_3227del MANE Select NP_037407.4:p.Glu1075GlyfsTer?
NM_001256182.2:c.3224_3227del NP_001243111.1:p.Glu1075GlyfsTer?
NM_001256183.2:c.3224_3227del NP_001243112.1:p.Glu1075GlyfsTer?