Canonical Allele Identifier: CA2573052745
Gene: MYO6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75886880_75886881del , CM000668.2:g.75886880_75886881del GRCh38
NC_000006.11:g.76596597_76596598del , CM000668.1:g.76596597_76596598del GRCh37
NC_000006.10:g.76653317_76653318del NCBI36
NG_009934.1:g.142689_142690del
NG_009934.2:g.142688_142689del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369975.6:c.2544_2545del ENSP00000358992.1:p.Arg849ThrfsTer2
ENST00000369977.8:c.2544_2545del MANE Select ENSP00000358994.3:p.Arg849ThrfsTer2
ENST00000369985.9:c.2544_2545del ENSP00000359002.3:p.Arg849ThrfsTer2
ENST00000462633.3:c.*2100_*2101del ENSP00000499616.2:n.*2100_*2101del
ENST00000627432.3:c.2553_2554del ENSP00000487348.2:p.Arg852ThrfsTer2
ENST00000653423.1:c.2544_2545del ENSP00000499696.1:p.Arg849ThrfsTer2
ENST00000653917.1:c.*651_*652del ENSP00000499623.1:n.*651_*652del
ENST00000660420.1:c.*2500_*2501del ENSP00000499263.1:n.*2500_*2501del
ENST00000662184.1:c.*651_*652del ENSP00000499732.1:n.*651_*652del
ENST00000662603.1:c.2544_2545del ENSP00000499324.1:p.Arg849ThrfsTer2
ENST00000663400.1:c.*569_*570del ENSP00000499736.1:n.*569_*570del
ENST00000664209.1:c.2544_2545del ENSP00000499768.1:p.Arg849ThrfsTer2
ENST00000664640.1:c.2544_2545del ENSP00000499278.1:p.Arg849ThrfsTer2
ENST00000671923.1:c.*651_*652del ENSP00000500835.1:n.*651_*652del
ENST00000672093.1:c.2544_2545del ENSP00000500710.1:p.Arg849ThrfsTer2
ENST00000369975.5:c.2544_2545del ENSP00000358992.1:p.Arg849ThrfsTer2
ENST00000369977.7:c.2544_2545del ENSP00000358994.3:p.Arg849ThrfsTer2
ENST00000369981.7:c.2544_2545del ENSP00000358998.4:p.Arg849ThrfsTer2
ENST00000369985.8:c.2544_2545del ENSP00000359002.3:p.Arg849ThrfsTer2
ENST00000615563.4:c.2544_2545del ENSP00000478013.1:p.Arg849ThrfsTer2
ENST00000627432.2:c.2544_2545del ENSP00000487348.1:p.Arg849ThrfsTer2
NM_001300899.1:c.2544_2545del NP_001287828.1:p.Arg849ThrfsTer2
NM_004999.3:c.2544_2545del NP_004990.3:p.Arg849ThrfsTer2
XM_005248719.2:c.2544_2545del XP_005248776.1:p.Arg849ThrfsTer2
XM_005248720.2:c.2544_2545del XP_005248777.1:p.Arg849ThrfsTer2
XM_005248721.2:c.2544_2545del XP_005248778.1:p.Arg849ThrfsTer2
XM_005248722.2:c.2544_2545del XP_005248779.1:p.Arg849ThrfsTer2
XM_005248724.2:c.2544_2545del XP_005248781.1:p.Arg849ThrfsTer2
XM_005248726.2:c.2544_2545del XP_005248783.1:p.Arg849ThrfsTer2
XM_005248719.4:c.2544_2545del XP_005248776.1:p.Arg849ThrfsTer2
XM_005248720.4:c.2544_2545del XP_005248777.1:p.Arg849ThrfsTer2
XM_005248721.4:c.2544_2545del XP_005248778.1:p.Arg849ThrfsTer2
XM_005248722.4:c.2544_2545del XP_005248779.1:p.Arg849ThrfsTer2
XM_005248724.4:c.2544_2545del XP_005248781.1:p.Arg849ThrfsTer2
XM_005248726.4:c.2544_2545del XP_005248783.1:p.Arg849ThrfsTer2
XM_017010899.2:c.2544_2545del XP_016866388.1:p.Arg849ThrfsTer2
XM_024446447.1:c.2544_2545del XP_024302215.1:p.Arg849ThrfsTer2
XM_024446448.1:c.2544_2545del XP_024302216.1:p.Arg849ThrfsTer2
NM_004999.4:c.2544_2545del MANE Select NP_004990.3:p.Arg849ThrfsTer2
NM_001300899.2:c.2544_2545del NP_001287828.1:p.Arg849ThrfsTer2
NM_001368136.1:c.2544_2545del NP_001355065.1:p.Arg849ThrfsTer2
NM_001368137.1:c.2544_2545del NP_001355066.1:p.Arg849ThrfsTer2
NM_001368138.1:c.2529_2530del NP_001355067.1:p.Arg844ThrfsTer2
NM_001368865.1:c.2544_2545del NP_001355794.1:p.Arg849ThrfsTer2
NM_001368866.1:c.2544_2545del NP_001355795.1:p.Arg849ThrfsTer2
NR_160538.1:n.2869_2870del