Canonical Allele Identifier: CA1984131561
Gene: MYO7A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77214696_77214698delinsAAC , CM000673.2:g.77214696_77214698delinsAAC GRCh38
NC_000011.9:g.76925741_76925743delinsAAC , CM000673.1:g.76925741_76925743delinsAAC GRCh37
NC_000011.8:g.76603389_76603391delinsAAC NCBI36
NG_009086.1:g.91432_91434delinsAAC
NG_009086.2:g.91451_91453delinsAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.6648_*2delinsAAC MANE Select ENSP00000386331.3:n.[c.6648_*2delinsAAC;Ter2216=]
ENST00000670577.1:c.4449_4451delinsAAC
ENST00000409619.6:c.6501_*2delinsAAC ENSP00000386635.2:n.[c.6501_*2delinsAAC;Ter2167=]
ENST00000409709.7:c.6648_*2delinsAAC ENSP00000386331.3:n.[c.6648_*2delinsAAC;Ter2216=]
ENST00000458169.2:c.4074_4076delinsAAC ENSP00000417017.2:n.[c.4074_4076delinsAAC;Ter1358=]
ENST00000458637.6:c.6528_*2delinsAAC ENSP00000392185.2:n.[c.6528_*2delinsAAC;Ter2176=]
ENST00000481328.7:n.5198_5200delinsAAC
ENST00000605744.1:n.2162_2164delinsAAC
NM_000260.3:c.6648_*2delinsAAC NP_000251.3:n.[c.6648_*2delinsAAC;Ter2216=]
NM_001127180.1:c.6528_*2delinsAAC NP_001120652.1:n.[c.6528_*2delinsAAC;Ter2176=]
XM_005274012.2:c.6531_*2delinsAAC XP_005274069.1:n.[c.6531_*2delinsAAC;Ter2177=]
XM_006718561.2:c.6534_*2delinsAAC XP_006718624.1:n.[c.6534_*2delinsAAC;Ter2178=]
XR_949941.1:n.6942_6944delinsAAC
XM_017017780.1:c.6738_*2delinsAAC XP_016873269.1:n.[c.6738_*2delinsAAC;Ter2246=]
XM_017017784.1:c.6621_*2delinsAAC XP_016873273.1:n.[c.6621_*2delinsAAC;Ter2207=]
XM_017017788.1:c.6624_*2delinsAAC XP_016873277.1:n.[c.6624_*2delinsAAC;Ter2208=]
XR_001747885.1:n.6727_6729delinsAAC
XR_001747887.1:n.6713_6715delinsAAC
NM_000260.4:c.6648_*2delinsAAC MANE Select NP_000251.3:n.[c.6648_*2delinsAAC;Ter2216=]
NM_001127180.2:c.6528_*2delinsAAC NP_001120652.1:n.[c.6528_*2delinsAAC;Ter2176=]
NM_001369365.1:c.6501_*2delinsAAC NP_001356294.1:n.[c.6501_*2delinsAAC;Ter2167=]