Canonical Allele Identifier: CA2792783617
Gene: MYO7A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77158522_77158523del , CM000673.2:g.77158522_77158523del GRCh38
NC_000011.9:g.76869568_76869569del , CM000673.1:g.76869568_76869569del GRCh37
NC_000011.8:g.76547216_76547217del NCBI36
NG_009086.1:g.35259_35260del
NG_009086.2:g.35277_35278del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.1003+92_1003+93del MANE Select ENSP00000386331.3:n.1003+92_1003+93del
ENST00000409619.6:c.970+92_970+93del ENSP00000386635.2:n.970+92_970+93del
ENST00000409709.7:c.1003+92_1003+93del ENSP00000386331.3:n.1003+92_1003+93del
ENST00000409893.5:c.1003+92_1003+93del ENSP00000386689.1:n.1003+92_1003+93del
ENST00000458637.6:c.1003+92_1003+93del ENSP00000392185.2:n.1003+92_1003+93del
ENST00000620575.4:c.1003+92_1003+93del ENSP00000477640.1:n.1003+92_1003+93del
NM_000260.3:c.1003+92_1003+93del NP_000251.3:n.1003+92_1003+93del
NM_001127179.2:c.1003+92_1003+93del NP_001120651.2:n.1003+92_1003+93del
NM_001127180.1:c.1003+92_1003+93del NP_001120652.1:n.1003+92_1003+93del
XM_005274012.2:c.1003+92_1003+93del XP_005274069.1:n.1003+92_1003+93del
XM_006718558.2:c.1003+92_1003+93del XP_006718621.1:n.1003+92_1003+93del
XM_006718559.2:c.1003+92_1003+93del XP_006718622.1:n.1003+92_1003+93del
XM_006718560.2:c.1003+92_1003+93del XP_006718623.1:n.1003+92_1003+93del
XM_006718561.2:c.1003+92_1003+93del XP_006718624.1:n.1003+92_1003+93del
XM_011545044.1:c.1003+92_1003+93del XP_011543346.1:n.1003+92_1003+93del
XM_011545045.1:c.1003+92_1003+93del XP_011543347.1:n.1003+92_1003+93del
XM_011545046.1:c.970+92_970+93del XP_011543348.1:n.970+92_970+93del
XM_011545047.1:c.1003+92_1003+93del XP_011543349.1:n.1003+92_1003+93del
XM_011545048.1:c.1003+92_1003+93del XP_011543350.1:n.1003+92_1003+93del
XM_011545049.1:c.849+1130_849+1131del XP_011543351.1:n.849+1130_849+1131del
XM_011545050.1:c.745+92_745+93del XP_011543352.1:n.745+92_745+93del
XM_011545051.1:c.1003+92_1003+93del XP_011543353.1:n.1003+92_1003+93del
XM_011545052.1:c.1003+92_1003+93del XP_011543354.1:n.1003+92_1003+93del
XR_949938.1:n.1323+92_1323+93del
XR_949941.1:n.1323+92_1323+93del
XR_949942.1:n.1325+92_1325+93del
XR_949943.1:n.1325+92_1325+93del
XM_011545044.2:c.1003+92_1003+93del XP_011543346.1:n.1003+92_1003+93del
XM_011545046.2:c.1093+92_1093+93del XP_011543348.2:n.1093+92_1093+93del
XM_011545050.2:c.745+92_745+93del XP_011543352.1:n.745+92_745+93del
XM_017017778.1:c.1093+92_1093+93del XP_016873267.1:n.1093+92_1093+93del
XM_017017779.1:c.1093+92_1093+93del XP_016873268.1:n.1093+92_1093+93del
XM_017017780.1:c.1093+92_1093+93del XP_016873269.1:n.1093+92_1093+93del
XM_017017781.1:c.1093+92_1093+93del XP_016873270.1:n.1093+92_1093+93del
XM_017017782.1:c.1093+92_1093+93del XP_016873271.1:n.1093+92_1093+93del
XM_017017783.1:c.1093+92_1093+93del XP_016873272.1:n.1093+92_1093+93del
XM_017017784.1:c.1093+92_1093+93del XP_016873273.1:n.1093+92_1093+93del
XM_017017785.1:c.939+1130_939+1131del XP_016873274.1:n.939+1130_939+1131del
XM_017017786.1:c.1093+92_1093+93del XP_016873275.1:n.1093+92_1093+93del
XM_017017787.1:c.1093+92_1093+93del XP_016873276.1:n.1093+92_1093+93del
XM_017017788.1:c.1093+92_1093+93del XP_016873277.1:n.1093+92_1093+93del
XR_001747885.1:n.1108+92_1108+93del
XR_001747886.1:n.1108+92_1108+93del
XR_001747887.1:n.1108+92_1108+93del
XR_001747888.1:n.1108+92_1108+93del
XR_001747889.1:n.1108+92_1108+93del
NM_000260.4:c.1003+92_1003+93del MANE Select NP_000251.3:n.1003+92_1003+93del
NM_001127180.2:c.1003+92_1003+93del NP_001120652.1:n.1003+92_1003+93del
NM_001369365.1:c.970+92_970+93del NP_001356294.1:n.970+92_970+93del