Canonical Allele Identifier: CA2574932053

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214687del , CM000673.2:g.77214687del	GRCh38
NC_000011.9:g.76925732del , CM000673.1:g.76925732del	GRCh37
NC_000011.8:g.76603380del	NCBI36
NG_009086.1:g.91423del
NG_009086.2:g.91442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6639del MANE Select	ENSP00000386331.3:p.Ser2213ArgfsTer?
ENST00000670577.1:c.4440del
ENST00000409619.6:c.6492del	ENSP00000386635.2:p.Ser2164ArgfsTer?
ENST00000409709.7:c.6639del	ENSP00000386331.3:p.Ser2213ArgfsTer?
ENST00000458169.2:c.4065del	ENSP00000417017.2:p.Ser1355ArgfsTer?
ENST00000458637.6:c.6519del	ENSP00000392185.2:p.Ser2173ArgfsTer?
ENST00000481328.7:n.5189del
ENST00000605744.1:n.2153del
NM_000260.3:c.6639del	NP_000251.3:p.Ser2213ArgfsTer?
NM_001127180.1:c.6519del	NP_001120652.1:p.Ser2173ArgfsTer?
XM_005274012.2:c.6522del	XP_005274069.1:p.Ser2174ArgfsTer?
XM_006718561.2:c.6525del	XP_006718624.1:p.Ser2175ArgfsTer?
XR_949941.1:n.6933del
XM_017017780.1:c.6729del	XP_016873269.1:p.Ser2243ArgfsTer?
XM_017017784.1:c.6612del	XP_016873273.1:p.Ser2204ArgfsTer?
XM_017017788.1:c.6615del	XP_016873277.1:p.Ser2205ArgfsTer?
XR_001747885.1:n.6718del
XR_001747887.1:n.6704del
NM_000260.4:c.6639del MANE Select	NP_000251.3:p.Ser2213ArgfsTer?
NM_001127180.2:c.6519del	NP_001120652.1:p.Ser2173ArgfsTer?
NM_001369365.1:c.6492del	NP_001356294.1:p.Ser2164ArgfsTer?