Canonical Allele Identifier: CA3897751

Gene: MYO6

Linked Data

• dbSNP Id: rs746865652
• ExAC: 6:76623855 GCATCCCATT / G
• gnomAD v2: 6-76623855-GCATCCCATT-G
• MyVariant Identifiers: chr6:g.76623856_76623864del (hg19) ; chr6:g.75914139_75914147del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75914144_75914152del , CM000668.2:g.75914144_75914152del	GRCh38
NC_000006.11:g.76623861_76623869del , CM000668.1:g.76623861_76623869del	GRCh37
NC_000006.10:g.76680581_76680589del	NCBI36
NG_009934.1:g.169953_169961del
NG_009934.2:g.169952_169960del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369975.6:c.3425_3433del	ENSP00000358992.1:p.Pro1142_Ile1144del
ENST00000369977.8:c.3521_3529del MANE Select	ENSP00000358994.3:p.Pro1174_Ile1176del
ENST00000369985.9:c.3452_3460del	ENSP00000359002.3:p.Pro1151_Ile1153del
ENST00000664640.1:c.3548_3556del	ENSP00000499278.1:p.Pro1183_Ile1185del
ENST00000671923.1:c.*1532_*1540del	ENSP00000500835.1:n.*1532_*1540del
ENST00000672093.1:c.3521_3529del	ENSP00000500710.1:p.Pro1174_Ile1176del
ENST00000672162.1:n.1687_1695del
ENST00000369975.5:c.3425_3433del	ENSP00000358992.1:p.Pro1142_Ile1144del
ENST00000369977.7:c.3521_3529del	ENSP00000358994.3:p.Pro1174_Ile1176del
ENST00000369981.7:c.3551_3559del	ENSP00000358998.4:p.Pro1184_Ile1186del
ENST00000369985.8:c.3452_3460del	ENSP00000359002.3:p.Pro1151_Ile1153del
ENST00000615563.4:c.3452_3460del	ENSP00000478013.1:p.Pro1151_Ile1153del
ENST00000627432.2:c.3548_3556del	ENSP00000487348.1:p.Pro1183_Ile1185del
NM_001300899.1:c.3452_3460del	NP_001287828.1:p.Pro1151_Ile1153del
NM_004999.3:c.3521_3529del	NP_004990.3:p.Pro1174_Ile1176del
XM_005248719.2:c.3548_3556del	XP_005248776.1:p.Pro1183_Ile1185del
XM_005248720.2:c.3521_3529del	XP_005248777.1:p.Pro1174_Ile1176del
XM_005248721.2:c.3509_3517del	XP_005248778.1:p.Pro1170_Ile1172del
XM_005248722.2:c.3494_3502del	XP_005248779.1:p.Pro1165_Ile1167del
XM_005248724.2:c.3482_3490del	XP_005248781.1:p.Pro1161_Ile1163del
XM_005248726.2:c.3425_3433del	XP_005248783.1:p.Pro1142_Ile1144del
XM_005248719.4:c.3548_3556del	XP_005248776.1:p.Pro1183_Ile1185del
XM_005248720.4:c.3521_3529del	XP_005248777.1:p.Pro1174_Ile1176del
XM_005248721.4:c.3509_3517del	XP_005248778.1:p.Pro1170_Ile1172del
XM_005248722.4:c.3494_3502del	XP_005248779.1:p.Pro1165_Ile1167del
XM_005248724.4:c.3482_3490del	XP_005248781.1:p.Pro1161_Ile1163del
XM_005248726.4:c.3425_3433del	XP_005248783.1:p.Pro1142_Ile1144del
XM_017010899.2:c.3455_3463del	XP_016866388.1:p.Pro1152_Ile1154del
XM_024446447.1:c.3548_3556del	XP_024302215.1:p.Pro1183_Ile1185del
XM_024446448.1:c.3482_3490del	XP_024302216.1:p.Pro1161_Ile1163del
NM_004999.4:c.3521_3529del MANE Select	NP_004990.3:p.Pro1174_Ile1176del
NM_001300899.2:c.3452_3460del	NP_001287828.1:p.Pro1151_Ile1153del
NM_001368136.1:c.3425_3433del	NP_001355065.1:p.Pro1142_Ile1144del
NM_001368137.1:c.3482_3490del	NP_001355066.1:p.Pro1161_Ile1163del
NM_001368138.1:c.3437_3445del	NP_001355067.1:p.Pro1146_Ile1148del
NM_001368865.1:c.3548_3556del	NP_001355794.1:p.Pro1183_Ile1185del
NM_001368866.1:c.3521_3529del	NP_001355795.1:p.Pro1174_Ile1176del
NR_160538.1:n.3750_3758del