Canonical Allele Identifier: CA2739270708
Community Standard Title: NM_000260.4(MYO7A):c.5208del (p.Lys1737ArgfsTer?)
Gene: MYO7A HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000260.4:c.5208del MANE Select NP_000251.3:p.Lys1737ArgfsTer?
ENST00000409709.9:c.5208del MANE Select ENSP00000386331.3:p.Lys1737ArgfsTer?
NM_000260.3:c.5208del NP_000251.3:p.Lys1737ArgfsTer?
NM_001127180.1:c.5094del NP_001120652.1:p.Lys1699ArgfsTer?
NM_001127180.2:c.5094del NP_001120652.1:p.Lys1699ArgfsTer?
NM_001369365.1:c.5061del NP_001356294.1:p.Lys1688ArgfsTer?
ENST00000409619.6:c.5061del ENSP00000386635.2:p.Lys1688ArgfsTer?
ENST00000409709.7:c.5208del ENSP00000386331.3:p.Lys1737ArgfsTer?
ENST00000458169.2:c.2634del ENSP00000417017.2:p.Lys879ArgfsTer?
ENST00000458637.6:c.5094del ENSP00000392185.2:p.Lys1699ArgfsTer?
ENST00000481328.7:n.2744del
ENST00000670577.1:c.3049del
XM_005274012.2:c.5091del XP_005274069.1:p.Lys1698ArgfsTer?
XM_006718558.2:c.5199del XP_006718621.1:p.Lys1734ArgfsTer?
XM_006718559.2:c.5094del XP_006718622.1:p.Lys1699ArgfsTer?
XM_006718560.2:c.5091del XP_006718623.1:p.Lys1698ArgfsTer?
XM_006718561.2:c.5094del XP_006718624.1:p.Lys1699ArgfsTer?
XM_011545044.1:c.5208del XP_011543346.1:p.Lys1737ArgfsTer?
XM_011545044.2:c.5208del XP_011543346.1:p.Lys1737ArgfsTer?
XM_011545045.1:c.5202del XP_011543347.1:p.Lys1735ArgfsTer?
XM_011545046.1:c.5175del XP_011543348.1:p.Lys1726ArgfsTer?
XM_011545046.2:c.5298del XP_011543348.2:p.Lys1767ArgfsTer?
XM_011545047.1:c.5112del XP_011543349.1:p.Lys1705ArgfsTer?
XM_011545048.1:c.4983del XP_011543350.1:p.Lys1662ArgfsTer?
XM_011545049.1:c.4971del XP_011543351.1:p.Lys1658ArgfsTer?
XM_011545050.1:c.4944del XP_011543352.1:p.Lys1649ArgfsTer?
XM_011545050.2:c.4944del XP_011543352.1:p.Lys1649ArgfsTer?
XM_011545051.1:c.5208del XP_011543353.1:p.Lys1737ArgfsTer?
XM_011545052.1:c.5208del XP_011543354.1:p.Lys1737ArgfsTer?
XM_017017778.1:c.5292del XP_016873267.1:p.Lys1765ArgfsTer?
XM_017017779.1:c.5289del XP_016873268.1:p.Lys1764ArgfsTer?
XM_017017780.1:c.5298del XP_016873269.1:p.Lys1767ArgfsTer?
XM_017017781.1:c.5202del XP_016873270.1:p.Lys1735ArgfsTer?
XM_017017782.1:c.5184del XP_016873271.1:p.Lys1729ArgfsTer?
XM_017017783.1:c.5181del XP_016873272.1:p.Lys1728ArgfsTer?
XM_017017784.1:c.5181del XP_016873273.1:p.Lys1728ArgfsTer?
XM_017017785.1:c.5061del XP_016873274.1:p.Lys1688ArgfsTer?
XM_017017786.1:c.5298del XP_016873275.1:p.Lys1767ArgfsTer?
XM_017017788.1:c.5184del XP_016873277.1:p.Lys1729ArgfsTer?
XR_001747885.1:n.5313del
XR_001747886.1:n.5313del
XR_001747887.1:n.5313del
XR_001747888.1:n.5313del
XR_949938.1:n.5528del
XR_949941.1:n.5528del
XR_949942.1:n.5530del