Canonical Allele Identifier: CA278730
Gene: MYO7A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77214662_77214682dup , CM000673.2:g.77214662_77214682dup GRCh38
NC_000011.9:g.76925707_76925727dup , CM000673.1:g.76925707_76925727dup GRCh37
NC_000011.8:g.76603355_76603375dup NCBI36
NG_009086.1:g.91398_91418dup
NG_009086.2:g.91417_91437dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.6614_6634dup MANE Select ENSP00000386331.3:p.Ser2211_Arg2212insMetSerLysGlnArgGlySer
ENST00000670577.1:c.4415_4435dup
ENST00000409619.6:c.6467_6487dup ENSP00000386635.2:p.Ser2162_Arg2163insMetSerLysGlnArgGlySer
ENST00000409709.7:c.6614_6634dup ENSP00000386331.3:p.Ser2211_Arg2212insMetSerLysGlnArgGlySer
ENST00000458169.2:c.4040_4060dup ENSP00000417017.2:p.Ser1353_Arg1354insMetSerLysGlnArgGlySer
ENST00000458637.6:c.6494_6514dup ENSP00000392185.2:p.Ser2171_Arg2172insMetSerLysGlnArgGlySer
ENST00000481328.7:n.5164_5184dup
ENST00000605744.1:n.2128_2148dup
NM_000260.3:c.6614_6634dup NP_000251.3:p.Ser2211_Arg2212insMetSerLysGlnArgGlySer
NM_001127180.1:c.6494_6514dup NP_001120652.1:p.Ser2171_Arg2172insMetSerLysGlnArgGlySer
XM_005274012.2:c.6497_6517dup XP_005274069.1:p.Ser2172_Arg2173insMetSerLysGlnArgGlySer
XM_006718561.2:c.6500_6520dup XP_006718624.1:p.Ser2173_Arg2174insMetSerLysGlnArgGlySer
XR_949941.1:n.6908_6928dup
XM_017017780.1:c.6704_6724dup XP_016873269.1:p.Ser2241_Arg2242insMetSerLysGlnArgGlySer
XM_017017784.1:c.6587_6607dup XP_016873273.1:p.Ser2202_Arg2203insMetSerLysGlnArgGlySer
XM_017017788.1:c.6590_6610dup XP_016873277.1:p.Ser2203_Arg2204insMetSerLysGlnArgGlySer
XR_001747885.1:n.6693_6713dup
XR_001747887.1:n.6679_6699dup
NM_000260.4:c.6614_6634dup MANE Select NP_000251.3:p.Ser2211_Arg2212insMetSerLysGlnArgGlySer
NM_001127180.2:c.6494_6514dup NP_001120652.1:p.Ser2171_Arg2172insMetSerLysGlnArgGlySer
NM_001369365.1:c.6467_6487dup NP_001356294.1:p.Ser2162_Arg2163insMetSerLysGlnArgGlySer
Search 100 bp 5'
Search 100 bp 3'