Canonical Allele Identifier: CA2574931821

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77207380del , CM000673.2:g.77207380del	GRCh38
NC_000011.9:g.76918425del , CM000673.1:g.76918425del	GRCh37
NC_000011.8:g.76596073del	NCBI36
NG_009086.1:g.84116del
NG_009086.2:g.84135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5834del MANE Select	ENSP00000386331.3:p.Leu1945ProfsTer25
ENST00000670577.1:c.3661del
ENST00000409619.6:c.5687del	ENSP00000386635.2:p.Leu1896ProfsTer25
ENST00000409709.7:c.5834del	ENSP00000386331.3:p.Leu1945ProfsTer25
ENST00000458169.2:c.3260del	ENSP00000417017.2:p.Leu1087ProfsTer25
ENST00000458637.6:c.5720del	ENSP00000392185.2:p.Leu1907ProfsTer25
ENST00000481328.7:n.3370del
ENST00000605744.1:n.748del
NM_000260.3:c.5834del	NP_000251.3:p.Leu1945ProfsTer25
NM_001127180.1:c.5720del	NP_001120652.1:p.Leu1907ProfsTer25
XM_005274012.2:c.5717del	XP_005274069.1:p.Leu1906ProfsTer25
XM_006718558.2:c.5825del	XP_006718621.1:p.Leu1942ProfsTer25
XM_006718559.2:c.5720del	XP_006718622.1:p.Leu1907ProfsTer25
XM_006718560.2:c.5717del	XP_006718623.1:p.Leu1906ProfsTer25
XM_006718561.2:c.5720del	XP_006718624.1:p.Leu1907ProfsTer25
XM_011545044.1:c.5834del	XP_011543346.1:p.Leu1945ProfsTer25
XM_011545045.1:c.5828del	XP_011543347.1:p.Leu1943ProfsTer25
XM_011545046.1:c.5801del	XP_011543348.1:p.Leu1934ProfsTer25
XM_011545047.1:c.5738del	XP_011543349.1:p.Leu1913ProfsTer25
XM_011545048.1:c.5609del	XP_011543350.1:p.Leu1870ProfsTer25
XM_011545049.1:c.5597del	XP_011543351.1:p.Leu1866ProfsTer25
XM_011545050.1:c.5570del	XP_011543352.1:p.Leu1857ProfsTer25
XM_011545051.1:c.5834del	XP_011543353.1:p.Leu1945ProfsTer25
XR_949938.1:n.6154del
XR_949941.1:n.6154del
XM_011545044.2:c.5834del	XP_011543346.1:p.Leu1945ProfsTer25
XM_011545046.2:c.5924del	XP_011543348.2:p.Leu1975ProfsTer25
XM_011545050.2:c.5570del	XP_011543352.1:p.Leu1857ProfsTer25
XM_017017778.1:c.5918del	XP_016873267.1:p.Leu1973ProfsTer25
XM_017017779.1:c.5915del	XP_016873268.1:p.Leu1972ProfsTer25
XM_017017780.1:c.5924del	XP_016873269.1:p.Leu1975ProfsTer25
XM_017017781.1:c.5828del	XP_016873270.1:p.Leu1943ProfsTer25
XM_017017782.1:c.5810del	XP_016873271.1:p.Leu1937ProfsTer25
XM_017017783.1:c.5807del	XP_016873272.1:p.Leu1936ProfsTer25
XM_017017784.1:c.5807del	XP_016873273.1:p.Leu1936ProfsTer25
XM_017017785.1:c.5687del	XP_016873274.1:p.Leu1896ProfsTer25
XM_017017786.1:c.5924del	XP_016873275.1:p.Leu1975ProfsTer25
XM_017017788.1:c.5810del	XP_016873277.1:p.Leu1937ProfsTer25
XR_001747885.1:n.5939del
XR_001747886.1:n.5854del
XR_001747887.1:n.5925del
NM_000260.4:c.5834del MANE Select	NP_000251.3:p.Leu1945ProfsTer25
NM_001127180.2:c.5720del	NP_001120652.1:p.Leu1907ProfsTer25
NM_001369365.1:c.5687del	NP_001356294.1:p.Leu1896ProfsTer25