Canonical Allele Identifier: CA912973159
Gene: MYO7A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77214675_77214691del , CM000673.2:g.77214675_77214691del GRCh38
NC_000011.9:g.76925720_76925736del , CM000673.1:g.76925720_76925736del GRCh37
NC_000011.8:g.76603368_76603384del NCBI36
NG_009086.1:g.91411_91427del
NG_009086.2:g.91430_91446del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.6627_6643del MANE Select ENSP00000386331.3:p.Gly2210ValfsTer?
ENST00000670577.1:c.4428_4444del
ENST00000409619.6:c.6480_6496del ENSP00000386635.2:p.Gly2161ValfsTer?
ENST00000409709.7:c.6627_6643del ENSP00000386331.3:p.Gly2210ValfsTer?
ENST00000458169.2:c.4053_4069del ENSP00000417017.2:p.Gly1352ValfsTer?
ENST00000458637.6:c.6507_6523del ENSP00000392185.2:p.Gly2170ValfsTer?
ENST00000481328.7:n.5177_5193del
ENST00000605744.1:n.2141_2157del
NM_000260.3:c.6627_6643del NP_000251.3:p.Gly2210ValfsTer?
NM_001127180.1:c.6507_6523del NP_001120652.1:p.Gly2170ValfsTer?
XM_005274012.2:c.6510_6526del XP_005274069.1:p.Gly2171ValfsTer?
XM_006718561.2:c.6513_6529del XP_006718624.1:p.Gly2172ValfsTer?
XR_949941.1:n.6921_6937del
XM_017017780.1:c.6717_6733del XP_016873269.1:p.Gly2240ValfsTer?
XM_017017784.1:c.6600_6616del XP_016873273.1:p.Gly2201ValfsTer?
XM_017017788.1:c.6603_6619del XP_016873277.1:p.Gly2202ValfsTer?
XR_001747885.1:n.6706_6722del
XR_001747887.1:n.6692_6708del
NM_000260.4:c.6627_6643del MANE Select NP_000251.3:p.Gly2210ValfsTer?
NM_001127180.2:c.6507_6523del NP_001120652.1:p.Gly2170ValfsTer?
NM_001369365.1:c.6480_6496del NP_001356294.1:p.Gly2161ValfsTer?