Canonical Allele Identifier: CA2792787663

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77190837_77190850del , CM000673.2:g.77190837_77190850del	GRCh38
NC_000011.9:g.76901882_76901895del , CM000673.1:g.76901882_76901895del	GRCh37
NC_000011.8:g.76579530_76579543del	NCBI36
NG_009086.1:g.67573_67586del
NG_009086.2:g.67592_67605del

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.3891_3904del MANE Select	ENSP00000386331.3:p.Phe1297LeufsTer6
ENST00000670577.1:c.1732_1745del
ENST00000409619.6:c.3858_3871del	ENSP00000386635.2:p.Phe1286LeufsTer6
ENST00000409709.7:c.3891_3904del	ENSP00000386331.3:p.Phe1297LeufsTer6
ENST00000458169.2:c.1434_1447del	ENSP00000417017.2:p.Phe478LeufsTer6
ENST00000458637.6:c.3891_3904del	ENSP00000392185.2:p.Phe1297LeufsTer6
ENST00000467137.1:n.418_431del
ENST00000481328.7:n.1434_1447del
NM_000260.3:c.3891_3904del	NP_000251.3:p.Phe1297LeufsTer6
NM_001127180.1:c.3891_3904del	NP_001120652.1:p.Phe1297LeufsTer6
XM_005274012.2:c.3891_3904del	XP_005274069.1:p.Phe1297LeufsTer6
XM_006718558.2:c.3891_3904del	XP_006718621.1:p.Phe1297LeufsTer6
XM_006718559.2:c.3891_3904del	XP_006718622.1:p.Phe1297LeufsTer6
XM_006718560.2:c.3891_3904del	XP_006718623.1:p.Phe1297LeufsTer6
XM_006718561.2:c.3891_3904del	XP_006718624.1:p.Phe1297LeufsTer6
XM_011545044.1:c.3891_3904del	XP_011543346.1:p.Phe1297LeufsTer6
XM_011545045.1:c.3891_3904del	XP_011543347.1:p.Phe1297LeufsTer6
XM_011545046.1:c.3858_3871del	XP_011543348.1:p.Phe1286LeufsTer6
XM_011545047.1:c.3801_3814del	XP_011543349.1:p.Phe1267LeufsTer6
XM_011545048.1:c.3672_3685del	XP_011543350.1:p.Phe1224LeufsTer6
XM_011545049.1:c.3660_3673del	XP_011543351.1:p.Phe1220LeufsTer6
XM_011545050.1:c.3633_3646del	XP_011543352.1:p.Phe1211LeufsTer6
XM_011545051.1:c.3891_3904del	XP_011543353.1:p.Phe1297LeufsTer6
XM_011545052.1:c.3891_3904del	XP_011543354.1:p.Phe1297LeufsTer6
XR_949938.1:n.4211_4224del
XR_949941.1:n.4211_4224del
XR_949942.1:n.4213_4226del
XR_949943.1:n.4213_4226del
XM_011545044.2:c.3891_3904del	XP_011543346.1:p.Phe1297LeufsTer6
XM_011545046.2:c.3981_3994del	XP_011543348.2:p.Phe1327LeufsTer6
XM_011545050.2:c.3633_3646del	XP_011543352.1:p.Phe1211LeufsTer6
XM_017017778.1:c.3981_3994del	XP_016873267.1:p.Phe1327LeufsTer6
XM_017017779.1:c.3981_3994del	XP_016873268.1:p.Phe1327LeufsTer6
XM_017017780.1:c.3981_3994del	XP_016873269.1:p.Phe1327LeufsTer6
XM_017017781.1:c.3891_3904del	XP_016873270.1:p.Phe1297LeufsTer6
XM_017017782.1:c.3981_3994del	XP_016873271.1:p.Phe1327LeufsTer6
XM_017017783.1:c.3981_3994del	XP_016873272.1:p.Phe1327LeufsTer6
XM_017017784.1:c.3981_3994del	XP_016873273.1:p.Phe1327LeufsTer6
XM_017017785.1:c.3750_3763del	XP_016873274.1:p.Phe1250LeufsTer6
XM_017017786.1:c.3981_3994del	XP_016873275.1:p.Phe1327LeufsTer6
XM_017017787.1:c.3981_3994del	XP_016873276.1:p.Phe1327LeufsTer6
XM_017017788.1:c.3981_3994del	XP_016873277.1:p.Phe1327LeufsTer6
XR_001747885.1:n.3996_4009del
XR_001747886.1:n.3996_4009del
XR_001747887.1:n.3996_4009del
XR_001747888.1:n.3996_4009del
XR_001747889.1:n.3996_4009del
NM_000260.4:c.3891_3904del MANE Select	NP_000251.3:p.Phe1297LeufsTer6
NM_001127180.2:c.3891_3904del	NP_001120652.1:p.Phe1297LeufsTer6
NM_001369365.1:c.3858_3871del	NP_001356294.1:p.Phe1286LeufsTer6