Canonical Allele Identifier: CA278680
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 43275
dbSNP Id: rs111033276

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77203099dup , CM000673.2:g.77203099dup GRCh38
NC_000011.9:g.76914144dup , CM000673.1:g.76914144dup GRCh37
NC_000011.8:g.76591792dup NCBI36
NG_009086.1:g.79835dup
NG_009086.2:g.79854dup

Transcript Alleles

HGVS Amino-acid change
ENST00000409709.9:c.5208dup MANE Select ENSP00000386331.3:p.Lys1737GlnfsTer28
ENST00000670577.1:c.3049dup
ENST00000409619.6:c.5061dup ENSP00000386635.2:p.Lys1688GlnfsTer28
ENST00000409709.7:c.5208dup ENSP00000386331.3:p.Lys1737GlnfsTer28
ENST00000458169.2:c.2634dup ENSP00000417017.2:p.Lys879GlnfsTer28
ENST00000458637.6:c.5094dup ENSP00000392185.2:p.Lys1699GlnfsTer28
ENST00000481328.7:n.2744dup
NM_000260.3:c.5208dup NP_000251.3:p.Lys1737GlnfsTer28
NM_001127180.1:c.5094dup NP_001120652.1:p.Lys1699GlnfsTer28
XM_005274012.2:c.5091dup XP_005274069.1:p.Lys1698GlnfsTer28
XM_006718558.2:c.5199dup XP_006718621.1:p.Lys1734GlnfsTer28
XM_006718559.2:c.5094dup XP_006718622.1:p.Lys1699GlnfsTer28
XM_006718560.2:c.5091dup XP_006718623.1:p.Lys1698GlnfsTer28
XM_006718561.2:c.5094dup XP_006718624.1:p.Lys1699GlnfsTer28
XM_011545044.1:c.5208dup XP_011543346.1:p.Lys1737GlnfsTer28
XM_011545045.1:c.5202dup XP_011543347.1:p.Lys1735GlnfsTer28
XM_011545046.1:c.5175dup XP_011543348.1:p.Lys1726GlnfsTer28
XM_011545047.1:c.5112dup XP_011543349.1:p.Lys1705GlnfsTer28
XM_011545048.1:c.4983dup XP_011543350.1:p.Lys1662GlnfsTer28
XM_011545049.1:c.4971dup XP_011543351.1:p.Lys1658GlnfsTer28
XM_011545050.1:c.4944dup XP_011543352.1:p.Lys1649GlnfsTer28
XM_011545051.1:c.5208dup XP_011543353.1:p.Lys1737GlnfsTer28
XM_011545052.1:c.5208dup XP_011543354.1:p.Lys1737GlnfsTer28
XR_949938.1:n.5528dup
XR_949941.1:n.5528dup
XR_949942.1:n.5530dup
XM_011545044.2:c.5208dup XP_011543346.1:p.Lys1737GlnfsTer28
XM_011545046.2:c.5298dup XP_011543348.2:p.Lys1767GlnfsTer28
XM_011545050.2:c.4944dup XP_011543352.1:p.Lys1649GlnfsTer28
XM_017017778.1:c.5292dup XP_016873267.1:p.Lys1765GlnfsTer28
XM_017017779.1:c.5289dup XP_016873268.1:p.Lys1764GlnfsTer28
XM_017017780.1:c.5298dup XP_016873269.1:p.Lys1767GlnfsTer28
XM_017017781.1:c.5202dup XP_016873270.1:p.Lys1735GlnfsTer28
XM_017017782.1:c.5184dup XP_016873271.1:p.Lys1729GlnfsTer28
XM_017017783.1:c.5181dup XP_016873272.1:p.Lys1728GlnfsTer28
XM_017017784.1:c.5181dup XP_016873273.1:p.Lys1728GlnfsTer28
XM_017017785.1:c.5061dup XP_016873274.1:p.Lys1688GlnfsTer28
XM_017017786.1:c.5298dup XP_016873275.1:p.Lys1767GlnfsTer28
XM_017017788.1:c.5184dup XP_016873277.1:p.Lys1729GlnfsTer28
XR_001747885.1:n.5313dup
XR_001747886.1:n.5313dup
XR_001747887.1:n.5313dup
XR_001747888.1:n.5313dup
NM_000260.4:c.5208dup MANE Select NP_000251.3:p.Lys1737GlnfsTer28
NM_001127180.2:c.5094dup NP_001120652.1:p.Lys1699GlnfsTer28
NM_001369365.1:c.5061dup NP_001356294.1:p.Lys1688GlnfsTer28