Canonical Allele Identifier: CA2615262498

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77211191-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211194del , CM000673.2:g.77211194del	GRCh38
NC_000011.9:g.76922239del , CM000673.1:g.76922239del	GRCh37
NC_000011.8:g.76599887del	NCBI36
NG_009086.1:g.87930del
NG_009086.2:g.87949del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6094del MANE Select	ENSP00000386331.3:p.Glu2032ArgfsTer9
ENST00000670577.1:c.3895del
ENST00000409619.6:c.5947del	ENSP00000386635.2:p.Glu1983ArgfsTer9
ENST00000409709.7:c.6094del	ENSP00000386331.3:p.Glu2032ArgfsTer9
ENST00000458169.2:c.3520del	ENSP00000417017.2:p.Glu1174ArgfsTer9
ENST00000458637.6:c.5980del	ENSP00000392185.2:p.Glu1994ArgfsTer9
ENST00000481328.7:n.3630del
ENST00000526863.2:n.25+283del
ENST00000605744.1:n.1561del
NM_000260.3:c.6094del	NP_000251.3:p.Glu2032ArgfsTer9
NM_001127180.1:c.5980del	NP_001120652.1:p.Glu1994ArgfsTer9
XM_005274012.2:c.5977del	XP_005274069.1:p.Glu1993ArgfsTer9
XM_006718558.2:c.6085del	XP_006718621.1:p.Glu2029ArgfsTer9
XM_006718559.2:c.5980del	XP_006718622.1:p.Glu1994ArgfsTer9
XM_006718560.2:c.5977del	XP_006718623.1:p.Glu1993ArgfsTer9
XM_006718561.2:c.5980del	XP_006718624.1:p.Glu1994ArgfsTer9
XM_011545044.1:c.6094del	XP_011543346.1:p.Glu2032ArgfsTer9
XM_011545045.1:c.6088del	XP_011543347.1:p.Glu2030ArgfsTer9
XM_011545046.1:c.6061del	XP_011543348.1:p.Glu2021ArgfsTer9
XM_011545047.1:c.5998del	XP_011543349.1:p.Glu2000ArgfsTer9
XM_011545048.1:c.5869del	XP_011543350.1:p.Glu1957ArgfsTer9
XM_011545049.1:c.5857del	XP_011543351.1:p.Glu1953ArgfsTer9
XM_011545050.1:c.5830del	XP_011543352.1:p.Glu1944ArgfsTer9
XM_011545051.1:c.6094del	XP_011543353.1:p.Glu2032ArgfsTer9
XR_949938.1:n.6414del
XR_949941.1:n.6388del
XM_011545044.2:c.6094del	XP_011543346.1:p.Glu2032ArgfsTer9
XM_011545046.2:c.6184del	XP_011543348.2:p.Glu2062ArgfsTer9
XM_011545050.2:c.5830del	XP_011543352.1:p.Glu1944ArgfsTer9
XM_017017778.1:c.6178del	XP_016873267.1:p.Glu2060ArgfsTer9
XM_017017779.1:c.6175del	XP_016873268.1:p.Glu2059ArgfsTer9
XM_017017780.1:c.6184del	XP_016873269.1:p.Glu2062ArgfsTer9
XM_017017781.1:c.6088del	XP_016873270.1:p.Glu2030ArgfsTer9
XM_017017782.1:c.6070del	XP_016873271.1:p.Glu2024ArgfsTer9
XM_017017783.1:c.6067del	XP_016873272.1:p.Glu2023ArgfsTer9
XM_017017784.1:c.6067del	XP_016873273.1:p.Glu2023ArgfsTer9
XM_017017785.1:c.5947del	XP_016873274.1:p.Glu1983ArgfsTer9
XM_017017786.1:c.6184del	XP_016873275.1:p.Glu2062ArgfsTer9
XM_017017788.1:c.6070del	XP_016873277.1:p.Glu2024ArgfsTer9
XR_001747885.1:n.6173del
XR_001747886.1:n.6114del
XR_001747887.1:n.6159del
NM_000260.4:c.6094del MANE Select	NP_000251.3:p.Glu2032ArgfsTer9
NM_001127180.2:c.5980del	NP_001120652.1:p.Glu1994ArgfsTer9
NM_001369365.1:c.5947del	NP_001356294.1:p.Glu1983ArgfsTer9