Canonical Allele Identifier: CA2497157115
Gene: MYO6 HGNC NCBI

Linked Data

dbSNP Id: rs1781004924

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75914522_75914523del , CM000668.2:g.75914522_75914523del GRCh38
NC_000006.11:g.76624239_76624240del , CM000668.1:g.76624239_76624240del GRCh37
NC_000006.10:g.76680959_76680960del NCBI36
NG_009934.1:g.170331_170332del
NG_009934.2:g.170330_170331del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369975.6:c.3562+241_3562+242del ENSP00000358992.1:n.3562+241_3562+242del
ENST00000369977.8:c.3658+241_3658+242del MANE Select ENSP00000358994.3:n.3658+241_3658+242del
ENST00000369985.9:c.3589+241_3589+242del ENSP00000359002.3:n.3589+241_3589+242del
ENST00000664640.1:c.3685+241_3685+242del ENSP00000499278.1:n.3685+241_3685+242del
ENST00000671923.1:c.*1669+241_*1669+242del ENSP00000500835.1:n.*1669+241_*1669+242del
ENST00000672093.1:c.3658+241_3658+242del ENSP00000500710.1:n.3658+241_3658+242del
ENST00000672162.1:n.1824+241_1824+242del
ENST00000369975.5:c.3562+241_3562+242del ENSP00000358992.1:n.3562+241_3562+242del
ENST00000369977.7:c.3658+241_3658+242del ENSP00000358994.3:n.3658+241_3658+242del
ENST00000369981.7:c.3688+241_3688+242del ENSP00000358998.4:n.3688+241_3688+242del
ENST00000369985.8:c.3589+241_3589+242del ENSP00000359002.3:n.3589+241_3589+242del
ENST00000615563.4:c.3589+241_3589+242del ENSP00000478013.1:n.3589+241_3589+242del
ENST00000627432.2:c.3685+241_3685+242del ENSP00000487348.1:n.3685+241_3685+242del
NM_001300899.1:c.3589+241_3589+242del NP_001287828.1:n.3589+241_3589+242del
NM_004999.3:c.3658+241_3658+242del NP_004990.3:n.3658+241_3658+242del
XM_005248719.2:c.3685+241_3685+242del XP_005248776.1:n.3685+241_3685+242del
XM_005248720.2:c.3658+241_3658+242del XP_005248777.1:n.3658+241_3658+242del
XM_005248721.2:c.3646+241_3646+242del XP_005248778.1:n.3646+241_3646+242del
XM_005248722.2:c.3631+241_3631+242del XP_005248779.1:n.3631+241_3631+242del
XM_005248724.2:c.3619+241_3619+242del XP_005248781.1:n.3619+241_3619+242del
XM_005248726.2:c.3562+241_3562+242del XP_005248783.1:n.3562+241_3562+242del
XM_005248719.4:c.3685+241_3685+242del XP_005248776.1:n.3685+241_3685+242del
XM_005248720.4:c.3658+241_3658+242del XP_005248777.1:n.3658+241_3658+242del
XM_005248721.4:c.3646+241_3646+242del XP_005248778.1:n.3646+241_3646+242del
XM_005248722.4:c.3631+241_3631+242del XP_005248779.1:n.3631+241_3631+242del
XM_005248724.4:c.3619+241_3619+242del XP_005248781.1:n.3619+241_3619+242del
XM_005248726.4:c.3562+241_3562+242del XP_005248783.1:n.3562+241_3562+242del
XM_017010899.2:c.3592+241_3592+242del XP_016866388.1:n.3592+241_3592+242del
XM_024446447.1:c.3685+241_3685+242del XP_024302215.1:n.3685+241_3685+242del
XM_024446448.1:c.3619+241_3619+242del XP_024302216.1:n.3619+241_3619+242del
NM_004999.4:c.3658+241_3658+242del MANE Select NP_004990.3:n.3658+241_3658+242del
NM_001300899.2:c.3589+241_3589+242del NP_001287828.1:n.3589+241_3589+242del
NM_001368136.1:c.3562+241_3562+242del NP_001355065.1:n.3562+241_3562+242del
NM_001368137.1:c.3619+241_3619+242del NP_001355066.1:n.3619+241_3619+242del
NM_001368138.1:c.3574+241_3574+242del NP_001355067.1:n.3574+241_3574+242del
NM_001368865.1:c.3685+241_3685+242del NP_001355794.1:n.3685+241_3685+242del
NM_001368866.1:c.3658+241_3658+242del NP_001355795.1:n.3658+241_3658+242del
NR_160538.1:n.3887+241_3887+242del