Canonical Allele Identifier: CA2695214996
Gene: MYO7A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77189363_77189374del , CM000673.2:g.77189363_77189374del GRCh38
NC_000011.9:g.76900408_76900419del , CM000673.1:g.76900408_76900419del GRCh37
NC_000011.8:g.76578056_76578067del NCBI36
NG_009086.1:g.66099_66110del
NG_009086.2:g.66118_66129del

Transcript Alleles

HGVS Amino-acid change
ENST00000409709.9:c.3523_3534del MANE Select ENSP00000386331.3:p.Ile1175_Gln1178del
ENST00000670577.1:c.1364_1375del
ENST00000409619.6:c.3490_3501del ENSP00000386635.2:p.Ile1164_Gln1167del
ENST00000409709.7:c.3523_3534del ENSP00000386331.3:p.Ile1175_Gln1178del
ENST00000458169.2:c.1066_1077del ENSP00000417017.2:p.Ile356_Gln359del
ENST00000458637.6:c.3523_3534del ENSP00000392185.2:p.Ile1175_Gln1178del
ENST00000467137.1:n.50_61del
ENST00000481328.7:n.1066_1077del
NM_000260.3:c.3523_3534del NP_000251.3:p.Ile1175_Gln1178del
NM_001127180.1:c.3523_3534del NP_001120652.1:p.Ile1175_Gln1178del
XM_005274012.2:c.3523_3534del XP_005274069.1:p.Ile1175_Gln1178del
XM_006718558.2:c.3523_3534del XP_006718621.1:p.Ile1175_Gln1178del
XM_006718559.2:c.3523_3534del XP_006718622.1:p.Ile1175_Gln1178del
XM_006718560.2:c.3523_3534del XP_006718623.1:p.Ile1175_Gln1178del
XM_006718561.2:c.3523_3534del XP_006718624.1:p.Ile1175_Gln1178del
XM_011545044.1:c.3523_3534del XP_011543346.1:p.Ile1175_Gln1178del
XM_011545045.1:c.3523_3534del XP_011543347.1:p.Ile1175_Gln1178del
XM_011545046.1:c.3490_3501del XP_011543348.1:p.Ile1164_Gln1167del
XM_011545047.1:c.3433_3444del XP_011543349.1:p.Ile1145_Gln1148del
XM_011545048.1:c.3304_3315del XP_011543350.1:p.Ile1102_Gln1105del
XM_011545049.1:c.3292_3303del XP_011543351.1:p.Ile1098_Gln1101del
XM_011545050.1:c.3265_3276del XP_011543352.1:p.Ile1089_Gln1092del
XM_011545051.1:c.3523_3534del XP_011543353.1:p.Ile1175_Gln1178del
XM_011545052.1:c.3523_3534del XP_011543354.1:p.Ile1175_Gln1178del
XR_949938.1:n.3843_3854del
XR_949941.1:n.3843_3854del
XR_949942.1:n.3845_3856del
XR_949943.1:n.3845_3856del
XM_011545044.2:c.3523_3534del XP_011543346.1:p.Ile1175_Gln1178del
XM_011545046.2:c.3613_3624del XP_011543348.2:p.Ile1205_Gln1208del
XM_011545050.2:c.3265_3276del XP_011543352.1:p.Ile1089_Gln1092del
XM_017017778.1:c.3613_3624del XP_016873267.1:p.Ile1205_Gln1208del
XM_017017779.1:c.3613_3624del XP_016873268.1:p.Ile1205_Gln1208del
XM_017017780.1:c.3613_3624del XP_016873269.1:p.Ile1205_Gln1208del
XM_017017781.1:c.3523_3534del XP_016873270.1:p.Ile1175_Gln1178del
XM_017017782.1:c.3613_3624del XP_016873271.1:p.Ile1205_Gln1208del
XM_017017783.1:c.3613_3624del XP_016873272.1:p.Ile1205_Gln1208del
XM_017017784.1:c.3613_3624del XP_016873273.1:p.Ile1205_Gln1208del
XM_017017785.1:c.3382_3393del XP_016873274.1:p.Ile1128_Gln1131del
XM_017017786.1:c.3613_3624del XP_016873275.1:p.Ile1205_Gln1208del
XM_017017787.1:c.3613_3624del XP_016873276.1:p.Ile1205_Gln1208del
XM_017017788.1:c.3613_3624del XP_016873277.1:p.Ile1205_Gln1208del
XR_001747885.1:n.3628_3639del
XR_001747886.1:n.3628_3639del
XR_001747887.1:n.3628_3639del
XR_001747888.1:n.3628_3639del
XR_001747889.1:n.3628_3639del
NM_000260.4:c.3523_3534del MANE Select NP_000251.3:p.Ile1175_Gln1178del
NM_001127180.2:c.3523_3534del NP_001120652.1:p.Ile1175_Gln1178del
NM_001369365.1:c.3490_3501del NP_001356294.1:p.Ile1164_Gln1167del