Canonical Allele Identifier: CA2695198939

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 2503070
• ClinVar RCV Id: RCV003389531

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77182037_77182038del , CM000673.2:g.77182037_77182038del	GRCh38
NC_000011.8:g.76570731_76570732del	NCBI36
NG_009086.1:g.58774_58775del
NG_009086.2:g.58792_58793del

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.2991_2992del MANE Select	ENSP00000386331.3:p.Glu998ValfsTer2
ENST00000409893.6:c.1056_1057del	ENSP00000386689.2:p.Glu353ValfsTer2
ENST00000670577.1:c.832_833del
ENST00000409619.6:c.2958_2959del	ENSP00000386635.2:p.Glu987ValfsTer2
ENST00000409709.7:c.2991_2992del	ENSP00000386331.3:p.Glu998ValfsTer2
ENST00000409893.5:c.2991_2992del	ENSP00000386689.1:p.Glu998ValfsTer2
ENST00000458169.2:c.534_535del	ENSP00000417017.2:p.Glu179ValfsTer2
ENST00000458637.6:c.2991_2992del	ENSP00000392185.2:p.Glu998ValfsTer2
ENST00000481328.7:n.534_535del
ENST00000620575.4:c.2991_2992del	ENSP00000477640.1:p.Glu998ValfsTer2
NM_000260.3:c.2991_2992del	NP_000251.3:p.Glu998ValfsTer2
NM_001127179.2:c.2991_2992del	NP_001120651.2:p.Glu998ValfsTer2
NM_001127180.1:c.2991_2992del	NP_001120652.1:p.Glu998ValfsTer2
XM_005274012.2:c.2991_2992del	XP_005274069.1:p.Glu998ValfsTer2
XM_006718558.2:c.2991_2992del	XP_006718621.1:p.Glu998ValfsTer2
XM_006718559.2:c.2991_2992del	XP_006718622.1:p.Glu998ValfsTer2
XM_006718560.2:c.2991_2992del	XP_006718623.1:p.Glu998ValfsTer2
XM_006718561.2:c.2991_2992del	XP_006718624.1:p.Glu998ValfsTer2
XM_011545044.1:c.2991_2992del	XP_011543346.1:p.Glu998ValfsTer2
XM_011545045.1:c.2991_2992del	XP_011543347.1:p.Glu998ValfsTer2
XM_011545046.1:c.2958_2959del	XP_011543348.1:p.Glu987ValfsTer2
XM_011545047.1:c.2991_2992del	XP_011543349.1:p.Glu998ValfsTer2
XM_011545048.1:c.2772_2773del	XP_011543350.1:p.Glu925ValfsTer2
XM_011545049.1:c.2760_2761del	XP_011543351.1:p.Glu921ValfsTer2
XM_011545050.1:c.2733_2734del	XP_011543352.1:p.Glu912ValfsTer2
XM_011545051.1:c.2991_2992del	XP_011543353.1:p.Glu998ValfsTer2
XM_011545052.1:c.2991_2992del	XP_011543354.1:p.Glu998ValfsTer2
XR_949938.1:n.3311_3312del
XR_949941.1:n.3311_3312del
XR_949942.1:n.3313_3314del
XR_949943.1:n.3313_3314del
XM_011545044.2:c.2991_2992del	XP_011543346.1:p.Glu998ValfsTer2
XM_011545046.2:c.3081_3082del	XP_011543348.2:p.Glu1028ValfsTer2
XM_011545050.2:c.2733_2734del	XP_011543352.1:p.Glu912ValfsTer2
XM_017017778.1:c.3081_3082del	XP_016873267.1:p.Glu1028ValfsTer2
XM_017017779.1:c.3081_3082del	XP_016873268.1:p.Glu1028ValfsTer2
XM_017017780.1:c.3081_3082del	XP_016873269.1:p.Glu1028ValfsTer2
XM_017017781.1:c.3081_3082del	XP_016873270.1:p.Glu1028ValfsTer2
XM_017017782.1:c.3081_3082del	XP_016873271.1:p.Glu1028ValfsTer2
XM_017017783.1:c.3081_3082del	XP_016873272.1:p.Glu1028ValfsTer2
XM_017017784.1:c.3081_3082del	XP_016873273.1:p.Glu1028ValfsTer2
XM_017017785.1:c.2850_2851del	XP_016873274.1:p.Glu951ValfsTer2
XM_017017786.1:c.3081_3082del	XP_016873275.1:p.Glu1028ValfsTer2
XM_017017787.1:c.3081_3082del	XP_016873276.1:p.Glu1028ValfsTer2
XM_017017788.1:c.3081_3082del	XP_016873277.1:p.Glu1028ValfsTer2
XR_001747885.1:n.3096_3097del
XR_001747886.1:n.3096_3097del
XR_001747887.1:n.3096_3097del
XR_001747888.1:n.3096_3097del
XR_001747889.1:n.3096_3097del
NM_000260.4:c.2991_2992del MANE Select	NP_000251.3:p.Glu998ValfsTer2
NM_001127180.2:c.2991_2992del	NP_001120652.1:p.Glu998ValfsTer2
NM_001369365.1:c.2958_2959del	NP_001356294.1:p.Glu987ValfsTer2