Canonical Allele Identifier: CA2962320705

Gene: MYO6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75914827del , CM000668.2:g.75914827del	GRCh38
NC_000006.11:g.76624544del , CM000668.1:g.76624544del	GRCh37
NC_000006.10:g.76681264del	NCBI36
NG_009934.1:g.170636del
NG_009934.2:g.170635del

Transcript Alleles

HGVS	Amino-acid Change
NM_004999.4:c.3673del MANE Select	NP_004990.3:p.Glu1225ArgfsTer5
ENST00000369977.8:c.3673del MANE Select	ENSP00000358994.3:p.Glu1225ArgfsTer5
NM_001300899.1:c.3604del	NP_001287828.1:p.Glu1202ArgfsTer5
NM_001300899.2:c.3604del	NP_001287828.1:p.Glu1202ArgfsTer5
NM_001368136.1:c.3577del	NP_001355065.1:p.Glu1193ArgfsTer5
NM_001368137.1:c.3634del	NP_001355066.1:p.Glu1212ArgfsTer5
NM_001368138.1:c.3589del	NP_001355067.1:p.Glu1197ArgfsTer5
NM_001368865.1:c.3700del	NP_001355794.1:p.Glu1234ArgfsTer5
NM_001368866.1:c.3673del	NP_001355795.1:p.Glu1225ArgfsTer5
NM_004999.3:c.3673del	NP_004990.3:p.Glu1225ArgfsTer5
NR_160538.1:n.3902del
ENST00000369975.5:c.3577del	ENSP00000358992.1:p.Glu1193ArgfsTer5
ENST00000369975.6:c.3577del	ENSP00000358992.1:p.Glu1193ArgfsTer5
ENST00000369977.7:c.3673del	ENSP00000358994.3:p.Glu1225ArgfsTer5
ENST00000369981.7:c.3703del	ENSP00000358998.4:p.Glu1235ArgfsTer5
ENST00000369985.8:c.3604del	ENSP00000359002.3:p.Glu1202ArgfsTer5
ENST00000369985.9:c.3604del	ENSP00000359002.3:p.Glu1202ArgfsTer5
ENST00000615563.4:c.3604del	ENSP00000478013.1:p.Glu1202ArgfsTer5
ENST00000627432.2:c.3700del	ENSP00000487348.1:p.Glu1234ArgfsTer5
ENST00000664640.1:c.3700del	ENSP00000499278.1:p.Glu1234ArgfsTer5
ENST00000671923.1:c.*1684del	ENSP00000500835.1:n.*1684del
ENST00000672093.1:c.3673del	ENSP00000500710.1:p.Glu1225ArgfsTer5
ENST00000672162.1:n.1839del
XM_005248719.2:c.3700del	XP_005248776.1:p.Glu1234ArgfsTer5
XM_005248719.4:c.3700del	XP_005248776.1:p.Glu1234ArgfsTer5
XM_005248720.2:c.3673del	XP_005248777.1:p.Glu1225ArgfsTer5
XM_005248720.4:c.3673del	XP_005248777.1:p.Glu1225ArgfsTer5
XM_005248721.2:c.3661del	XP_005248778.1:p.Glu1221ArgfsTer5
XM_005248721.4:c.3661del	XP_005248778.1:p.Glu1221ArgfsTer5
XM_005248722.2:c.3646del	XP_005248779.1:p.Glu1216ArgfsTer5
XM_005248722.4:c.3646del	XP_005248779.1:p.Glu1216ArgfsTer5
XM_005248724.2:c.3634del	XP_005248781.1:p.Glu1212ArgfsTer5
XM_005248724.4:c.3634del	XP_005248781.1:p.Glu1212ArgfsTer5
XM_005248726.2:c.3577del	XP_005248783.1:p.Glu1193ArgfsTer5
XM_005248726.4:c.3577del	XP_005248783.1:p.Glu1193ArgfsTer5
XM_017010899.2:c.3607del	XP_016866388.1:p.Glu1203ArgfsTer5
XM_024446447.1:c.3700del	XP_024302215.1:p.Glu1234ArgfsTer5
XM_024446448.1:c.3634del	XP_024302216.1:p.Glu1212ArgfsTer5