Canonical Allele Identifier: CA828153292

Gene: MYO6

Linked Data

• dbSNP Id: rs1237625182
• gnomAD v3: 6-75914197-T-TGG
• gnomAD v4: 6-75914197-T-TGG
• MyVariant Identifiers: chr6:g.76623914_76623915insGG (hg19) ; chr6:g.75914197_75914198insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75914198_75914199dup , CM000668.2:g.75914198_75914199dup	GRCh38
NC_000006.11:g.76623915_76623916dup , CM000668.1:g.76623915_76623916dup	GRCh37
NC_000006.10:g.76680635_76680636dup	NCBI36
NG_009934.1:g.170007_170008dup
NG_009934.2:g.170006_170007dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369975.6:c.3479_3480dup	ENSP00000358992.1:p.Trp1161GlyfsTer?
ENST00000369977.8:c.3575_3576dup MANE Select	ENSP00000358994.3:p.Trp1193GlyfsTer?
ENST00000369985.9:c.3506_3507dup	ENSP00000359002.3:p.Trp1170GlyfsTer?
ENST00000664640.1:c.3602_3603dup	ENSP00000499278.1:p.Trp1202GlyfsTer?
ENST00000671923.1:c.*1586_*1587dup	ENSP00000500835.1:n.*1586_*1587dup
ENST00000672093.1:c.3575_3576dup	ENSP00000500710.1:p.Trp1193GlyfsTer?
ENST00000672162.1:n.1741_1742dup
ENST00000369975.5:c.3479_3480dup	ENSP00000358992.1:p.Trp1161GlyfsTer?
ENST00000369977.7:c.3575_3576dup	ENSP00000358994.3:p.Trp1193GlyfsTer?
ENST00000369981.7:c.3605_3606dup	ENSP00000358998.4:p.Trp1203GlyfsTer?
ENST00000369985.8:c.3506_3507dup	ENSP00000359002.3:p.Trp1170GlyfsTer?
ENST00000615563.4:c.3506_3507dup	ENSP00000478013.1:p.Trp1170GlyfsTer?
ENST00000627432.2:c.3602_3603dup	ENSP00000487348.1:p.Trp1202GlyfsTer?
NM_001300899.1:c.3506_3507dup	NP_001287828.1:p.Trp1170GlyfsTer?
NM_004999.3:c.3575_3576dup	NP_004990.3:p.Trp1193GlyfsTer?
XM_005248719.2:c.3602_3603dup	XP_005248776.1:p.Trp1202GlyfsTer?
XM_005248720.2:c.3575_3576dup	XP_005248777.1:p.Trp1193GlyfsTer?
XM_005248721.2:c.3563_3564dup	XP_005248778.1:p.Trp1189GlyfsTer?
XM_005248722.2:c.3548_3549dup	XP_005248779.1:p.Trp1184GlyfsTer?
XM_005248724.2:c.3536_3537dup	XP_005248781.1:p.Trp1180GlyfsTer?
XM_005248726.2:c.3479_3480dup	XP_005248783.1:p.Trp1161GlyfsTer?
XM_005248719.4:c.3602_3603dup	XP_005248776.1:p.Trp1202GlyfsTer?
XM_005248720.4:c.3575_3576dup	XP_005248777.1:p.Trp1193GlyfsTer?
XM_005248721.4:c.3563_3564dup	XP_005248778.1:p.Trp1189GlyfsTer?
XM_005248722.4:c.3548_3549dup	XP_005248779.1:p.Trp1184GlyfsTer?
XM_005248724.4:c.3536_3537dup	XP_005248781.1:p.Trp1180GlyfsTer?
XM_005248726.4:c.3479_3480dup	XP_005248783.1:p.Trp1161GlyfsTer?
XM_017010899.2:c.3509_3510dup	XP_016866388.1:p.Trp1171GlyfsTer?
XM_024446447.1:c.3602_3603dup	XP_024302215.1:p.Trp1202GlyfsTer?
XM_024446448.1:c.3536_3537dup	XP_024302216.1:p.Trp1180GlyfsTer?
NM_004999.4:c.3575_3576dup MANE Select	NP_004990.3:p.Trp1193GlyfsTer?
NM_001300899.2:c.3506_3507dup	NP_001287828.1:p.Trp1170GlyfsTer?
NM_001368136.1:c.3479_3480dup	NP_001355065.1:p.Trp1161GlyfsTer?
NM_001368137.1:c.3536_3537dup	NP_001355066.1:p.Trp1180GlyfsTer?
NM_001368138.1:c.3491_3492dup	NP_001355067.1:p.Trp1165GlyfsTer?
NM_001368865.1:c.3602_3603dup	NP_001355794.1:p.Trp1202GlyfsTer?
NM_001368866.1:c.3575_3576dup	NP_001355795.1:p.Trp1193GlyfsTer?
NR_160538.1:n.3804_3805dup