Canonical Allele Identifier: CA2838634539

Gene: MYO6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75914193dup , CM000668.2:g.75914193dup	GRCh38
NC_000006.11:g.76623910dup , CM000668.1:g.76623910dup	GRCh37
NC_000006.10:g.76680630dup	NCBI36
NG_009934.1:g.170002dup
NG_009934.2:g.170001dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369975.6:c.3474dup	ENSP00000358992.1:p.Gly1159ArgfsTer8
ENST00000369977.8:c.3570dup MANE Select	ENSP00000358994.3:p.Gly1191ArgfsTer8
ENST00000369985.9:c.3501dup	ENSP00000359002.3:p.Gly1168ArgfsTer8
ENST00000664640.1:c.3597dup	ENSP00000499278.1:p.Gly1200ArgfsTer8
ENST00000671923.1:c.*1581dup	ENSP00000500835.1:n.*1581dup
ENST00000672093.1:c.3570dup	ENSP00000500710.1:p.Gly1191ArgfsTer8
ENST00000672162.1:n.1736dup
ENST00000369975.5:c.3474dup	ENSP00000358992.1:p.Gly1159ArgfsTer8
ENST00000369977.7:c.3570dup	ENSP00000358994.3:p.Gly1191ArgfsTer8
ENST00000369981.7:c.3600dup	ENSP00000358998.4:p.Gly1201ArgfsTer8
ENST00000369985.8:c.3501dup	ENSP00000359002.3:p.Gly1168ArgfsTer8
ENST00000615563.4:c.3501dup	ENSP00000478013.1:p.Gly1168ArgfsTer8
ENST00000627432.2:c.3597dup	ENSP00000487348.1:p.Gly1200ArgfsTer8
NM_001300899.1:c.3501dup	NP_001287828.1:p.Gly1168ArgfsTer8
NM_004999.3:c.3570dup	NP_004990.3:p.Gly1191ArgfsTer8
XM_005248719.2:c.3597dup	XP_005248776.1:p.Gly1200ArgfsTer8
XM_005248720.2:c.3570dup	XP_005248777.1:p.Gly1191ArgfsTer8
XM_005248721.2:c.3558dup	XP_005248778.1:p.Gly1187ArgfsTer8
XM_005248722.2:c.3543dup	XP_005248779.1:p.Gly1182ArgfsTer8
XM_005248724.2:c.3531dup	XP_005248781.1:p.Gly1178ArgfsTer8
XM_005248726.2:c.3474dup	XP_005248783.1:p.Gly1159ArgfsTer8
XM_005248719.4:c.3597dup	XP_005248776.1:p.Gly1200ArgfsTer8
XM_005248720.4:c.3570dup	XP_005248777.1:p.Gly1191ArgfsTer8
XM_005248721.4:c.3558dup	XP_005248778.1:p.Gly1187ArgfsTer8
XM_005248722.4:c.3543dup	XP_005248779.1:p.Gly1182ArgfsTer8
XM_005248724.4:c.3531dup	XP_005248781.1:p.Gly1178ArgfsTer8
XM_005248726.4:c.3474dup	XP_005248783.1:p.Gly1159ArgfsTer8
XM_017010899.2:c.3504dup	XP_016866388.1:p.Gly1169ArgfsTer8
XM_024446447.1:c.3597dup	XP_024302215.1:p.Gly1200ArgfsTer8
XM_024446448.1:c.3531dup	XP_024302216.1:p.Gly1178ArgfsTer8
NM_004999.4:c.3570dup MANE Select	NP_004990.3:p.Gly1191ArgfsTer8
NM_001300899.2:c.3501dup	NP_001287828.1:p.Gly1168ArgfsTer8
NM_001368136.1:c.3474dup	NP_001355065.1:p.Gly1159ArgfsTer8
NM_001368137.1:c.3531dup	NP_001355066.1:p.Gly1178ArgfsTer8
NM_001368138.1:c.3486dup	NP_001355067.1:p.Gly1163ArgfsTer8
NM_001368865.1:c.3597dup	NP_001355794.1:p.Gly1200ArgfsTer8
NM_001368866.1:c.3570dup	NP_001355795.1:p.Gly1191ArgfsTer8
NR_160538.1:n.3799dup