Canonical Allele Identifier: CA2497157113
Gene: MYO6 HGNC NCBI

Linked Data

dbSNP Id: rs1780978874

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75914156dup , CM000668.2:g.75914156dup GRCh38
NC_000006.11:g.76623873dup , CM000668.1:g.76623873dup GRCh37
NC_000006.10:g.76680593dup NCBI36
NG_009934.1:g.169965dup
NG_009934.2:g.169964dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000369975.6:c.3437dup ENSP00000358992.1:p.Ala1147CysfsTer10
ENST00000369977.8:c.3533dup MANE Select ENSP00000358994.3:p.Ala1179CysfsTer10
ENST00000369985.9:c.3464dup ENSP00000359002.3:p.Ala1156CysfsTer10
ENST00000664640.1:c.3560dup ENSP00000499278.1:p.Ala1188CysfsTer10
ENST00000671923.1:c.*1544dup ENSP00000500835.1:n.*1544dup
ENST00000672093.1:c.3533dup ENSP00000500710.1:p.Ala1179CysfsTer10
ENST00000672162.1:n.1699dup
ENST00000369975.5:c.3437dup ENSP00000358992.1:p.Ala1147CysfsTer10
ENST00000369977.7:c.3533dup ENSP00000358994.3:p.Ala1179CysfsTer10
ENST00000369981.7:c.3563dup ENSP00000358998.4:p.Ala1189CysfsTer10
ENST00000369985.8:c.3464dup ENSP00000359002.3:p.Ala1156CysfsTer10
ENST00000615563.4:c.3464dup ENSP00000478013.1:p.Ala1156CysfsTer10
ENST00000627432.2:c.3560dup ENSP00000487348.1:p.Ala1188CysfsTer10
NM_001300899.1:c.3464dup NP_001287828.1:p.Ala1156CysfsTer10
NM_004999.3:c.3533dup NP_004990.3:p.Ala1179CysfsTer10
XM_005248719.2:c.3560dup XP_005248776.1:p.Ala1188CysfsTer10
XM_005248720.2:c.3533dup XP_005248777.1:p.Ala1179CysfsTer10
XM_005248721.2:c.3521dup XP_005248778.1:p.Ala1175CysfsTer10
XM_005248722.2:c.3506dup XP_005248779.1:p.Ala1170CysfsTer10
XM_005248724.2:c.3494dup XP_005248781.1:p.Ala1166CysfsTer10
XM_005248726.2:c.3437dup XP_005248783.1:p.Ala1147CysfsTer10
XM_005248719.4:c.3560dup XP_005248776.1:p.Ala1188CysfsTer10
XM_005248720.4:c.3533dup XP_005248777.1:p.Ala1179CysfsTer10
XM_005248721.4:c.3521dup XP_005248778.1:p.Ala1175CysfsTer10
XM_005248722.4:c.3506dup XP_005248779.1:p.Ala1170CysfsTer10
XM_005248724.4:c.3494dup XP_005248781.1:p.Ala1166CysfsTer10
XM_005248726.4:c.3437dup XP_005248783.1:p.Ala1147CysfsTer10
XM_017010899.2:c.3467dup XP_016866388.1:p.Ala1157CysfsTer10
XM_024446447.1:c.3560dup XP_024302215.1:p.Ala1188CysfsTer10
XM_024446448.1:c.3494dup XP_024302216.1:p.Ala1166CysfsTer10
NM_004999.4:c.3533dup MANE Select NP_004990.3:p.Ala1179CysfsTer10
NM_001300899.2:c.3464dup NP_001287828.1:p.Ala1156CysfsTer10
NM_001368136.1:c.3437dup NP_001355065.1:p.Ala1147CysfsTer10
NM_001368137.1:c.3494dup NP_001355066.1:p.Ala1166CysfsTer10
NM_001368138.1:c.3449dup NP_001355067.1:p.Ala1151CysfsTer10
NM_001368865.1:c.3560dup NP_001355794.1:p.Ala1188CysfsTer10
NM_001368866.1:c.3533dup NP_001355795.1:p.Ala1179CysfsTer10
NR_160538.1:n.3762dup