Canonical Allele Identifier: CA658821724

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 553745
• ClinVar RCV Id: RCV000669258
• dbSNP Id: rs1555111501
• MyVariant Identifiers: chr11:g.77214676_77214691del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214676_77214691del , CM000673.2:g.77214676_77214691del	GRCh38
NC_000011.9:g.76925721_76925736del , CM000673.1:g.76925721_76925736del	GRCh37
NC_000011.8:g.76603369_76603384del	NCBI36
NG_009086.1:g.91412_91427del
NG_009086.2:g.91431_91446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6628_6643del MANE Select	ENSP00000386331.3:p.Gly2210SerfsTer?
ENST00000670577.1:c.4429_4444del
ENST00000409619.6:c.6481_6496del	ENSP00000386635.2:p.Gly2161SerfsTer?
ENST00000409709.7:c.6628_6643del	ENSP00000386331.3:p.Gly2210SerfsTer?
ENST00000458169.2:c.4054_4069del	ENSP00000417017.2:p.Gly1352SerfsTer?
ENST00000458637.6:c.6508_6523del	ENSP00000392185.2:p.Gly2170SerfsTer?
ENST00000481328.7:n.5178_5193del
ENST00000605744.1:n.2142_2157del
NM_000260.3:c.6628_6643del	NP_000251.3:p.Gly2210SerfsTer?
NM_001127180.1:c.6508_6523del	NP_001120652.1:p.Gly2170SerfsTer?
XM_005274012.2:c.6511_6526del	XP_005274069.1:p.Gly2171SerfsTer?
XM_006718561.2:c.6514_6529del	XP_006718624.1:p.Gly2172SerfsTer?
XR_949941.1:n.6922_6937del
XM_017017780.1:c.6718_6733del	XP_016873269.1:p.Gly2240SerfsTer?
XM_017017784.1:c.6601_6616del	XP_016873273.1:p.Gly2201SerfsTer?
XM_017017788.1:c.6604_6619del	XP_016873277.1:p.Gly2202SerfsTer?
XR_001747885.1:n.6707_6722del
XR_001747887.1:n.6693_6708del
NM_000260.4:c.6628_6643del MANE Select	NP_000251.3:p.Gly2210SerfsTer?
NM_001127180.2:c.6508_6523del	NP_001120652.1:p.Gly2170SerfsTer?
NM_001369365.1:c.6481_6496del	NP_001356294.1:p.Gly2161SerfsTer?