Canonical Allele Identifier: CA1984131536

Gene: MYO7A

Linked Data

• dbSNP Id: rs1958047632

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214667_77214687dup , CM000673.2:g.77214667_77214687dup	GRCh38
NC_000011.9:g.76925712_76925732dup , CM000673.1:g.76925712_76925732dup	GRCh37
NC_000011.8:g.76603360_76603380dup	NCBI36
NG_009086.1:g.91403_91423dup
NG_009086.2:g.91422_91442dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6619_6639dup MANE Select	ENSP00000386331.3:p.Ser2213_Gly2214insLysGlnArgGlySerArgSer
ENST00000670577.1:c.4420_4440dup
ENST00000409619.6:c.6472_6492dup	ENSP00000386635.2:p.Ser2164_Gly2165insLysGlnArgGlySerArgSer
ENST00000409709.7:c.6619_6639dup	ENSP00000386331.3:p.Ser2213_Gly2214insLysGlnArgGlySerArgSer
ENST00000458169.2:c.4045_4065dup	ENSP00000417017.2:p.Ser1355_Gly1356insLysGlnArgGlySerArgSer
ENST00000458637.6:c.6499_6519dup	ENSP00000392185.2:p.Ser2173_Gly2174insLysGlnArgGlySerArgSer
ENST00000481328.7:n.5169_5189dup
ENST00000605744.1:n.2133_2153dup
NM_000260.3:c.6619_6639dup	NP_000251.3:p.Ser2213_Gly2214insLysGlnArgGlySerArgSer
NM_001127180.1:c.6499_6519dup	NP_001120652.1:p.Ser2173_Gly2174insLysGlnArgGlySerArgSer
XM_005274012.2:c.6502_6522dup	XP_005274069.1:p.Ser2174_Gly2175insLysGlnArgGlySerArgSer
XM_006718561.2:c.6505_6525dup	XP_006718624.1:p.Ser2175_Gly2176insLysGlnArgGlySerArgSer
XR_949941.1:n.6913_6933dup
XM_017017780.1:c.6709_6729dup	XP_016873269.1:p.Ser2243_Gly2244insLysGlnArgGlySerArgSer
XM_017017784.1:c.6592_6612dup	XP_016873273.1:p.Ser2204_Gly2205insLysGlnArgGlySerArgSer
XM_017017788.1:c.6595_6615dup	XP_016873277.1:p.Ser2205_Gly2206insLysGlnArgGlySerArgSer
XR_001747885.1:n.6698_6718dup
XR_001747887.1:n.6684_6704dup
NM_000260.4:c.6619_6639dup MANE Select	NP_000251.3:p.Ser2213_Gly2214insLysGlnArgGlySerArgSer
NM_001127180.2:c.6499_6519dup	NP_001120652.1:p.Ser2173_Gly2174insLysGlnArgGlySerArgSer
NM_001369365.1:c.6472_6492dup	NP_001356294.1:p.Ser2164_Gly2165insLysGlnArgGlySerArgSer