Canonical Allele Identifier: CA1984131542
Gene: MYO7A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77214675_77214691delinsGGGCTCCAGGAGCGGCA , CM000673.2:g.77214675_77214691delinsGGGCTCCAGGAGCGGCA GRCh38
NC_000011.9:g.76925720_76925736delinsGGGCTCCAGGAGCGGCA , CM000673.1:g.76925720_76925736delinsGGGCTCCAGGAGCGGCA GRCh37
NC_000011.8:g.76603368_76603384delinsGGGCTCCAGGAGCGGCA NCBI36
NG_009086.1:g.91411_91427delinsGGGCTCCAGGAGCGGCA
NG_009086.2:g.91430_91446delinsGGGCTCCAGGAGCGGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.6627_6643delinsGGGCTCCAGGAGCGGCA MANE Select ENSP00000386331.3:p.Arg2209=
ENST00000670577.1:c.4428_4444delinsGGGCTCCAGGAGCGGCA
ENST00000409619.6:c.6480_6496delinsGGGCTCCAGGAGCGGCA ENSP00000386635.2:p.Arg2160=
ENST00000409709.7:c.6627_6643delinsGGGCTCCAGGAGCGGCA ENSP00000386331.3:p.Arg2209=
ENST00000458169.2:c.4053_4069delinsGGGCTCCAGGAGCGGCA ENSP00000417017.2:p.Arg1351=
ENST00000458637.6:c.6507_6523delinsGGGCTCCAGGAGCGGCA ENSP00000392185.2:p.Arg2169=
ENST00000481328.7:n.5177_5193delinsGGGCTCCAGGAGCGGCA
ENST00000605744.1:n.2141_2157delinsGGGCTCCAGGAGCGGCA
NM_000260.3:c.6627_6643delinsGGGCTCCAGGAGCGGCA NP_000251.3:p.Arg2209=
NM_001127180.1:c.6507_6523delinsGGGCTCCAGGAGCGGCA NP_001120652.1:p.Arg2169=
XM_005274012.2:c.6510_6526delinsGGGCTCCAGGAGCGGCA XP_005274069.1:p.Arg2170=
XM_006718561.2:c.6513_6529delinsGGGCTCCAGGAGCGGCA XP_006718624.1:p.Arg2171=
XR_949941.1:n.6921_6937delinsGGGCTCCAGGAGCGGCA
XM_017017780.1:c.6717_6733delinsGGGCTCCAGGAGCGGCA XP_016873269.1:p.Arg2239=
XM_017017784.1:c.6600_6616delinsGGGCTCCAGGAGCGGCA XP_016873273.1:p.Arg2200=
XM_017017788.1:c.6603_6619delinsGGGCTCCAGGAGCGGCA XP_016873277.1:p.Arg2201=
XR_001747885.1:n.6706_6722delinsGGGCTCCAGGAGCGGCA
XR_001747887.1:n.6692_6708delinsGGGCTCCAGGAGCGGCA
NM_000260.4:c.6627_6643delinsGGGCTCCAGGAGCGGCA MANE Select NP_000251.3:p.Arg2209=
NM_001127180.2:c.6507_6523delinsGGGCTCCAGGAGCGGCA NP_001120652.1:p.Arg2169=
NM_001369365.1:c.6480_6496delinsGGGCTCCAGGAGCGGCA NP_001356294.1:p.Arg2160=