Canonical Allele Identifier: CA2697548854
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 2695558
ClinVar RCV Id: RCV003542162

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77211162_77211163delinsGA , CM000673.2:g.77211162_77211163delinsGA GRCh38
NC_000011.9:g.76922207_76922208delinsGA , CM000673.1:g.76922207_76922208delinsGA GRCh37
NC_000011.8:g.76599855_76599856delinsGA NCBI36
NG_009086.1:g.87898_87899delinsGA
NG_009086.2:g.87917_87918delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.6062_6063delinsGA MANE Select ENSP00000386331.3:p.Lys2021Arg
ENST00000670577.1:c.3863_3864delinsGA
ENST00000409619.6:c.5915_5916delinsGA ENSP00000386635.2:p.Lys1972Arg
ENST00000409709.7:c.6062_6063delinsGA ENSP00000386331.3:p.Lys2021Arg
ENST00000458169.2:c.3488_3489delinsGA ENSP00000417017.2:p.Lys1163Arg
ENST00000458637.6:c.5948_5949delinsGA ENSP00000392185.2:p.Lys1983Arg
ENST00000481328.7:n.3598_3599delinsGA
ENST00000526863.2:n.25+251_25+252delinsGA
ENST00000605744.1:n.1529_1530delinsGA
NM_000260.3:c.6062_6063delinsGA NP_000251.3:p.Lys2021Arg
NM_001127180.1:c.5948_5949delinsGA NP_001120652.1:p.Lys1983Arg
XM_005274012.2:c.5945_5946delinsGA XP_005274069.1:p.Lys1982Arg
XM_006718558.2:c.6053_6054delinsGA XP_006718621.1:p.Lys2018Arg
XM_006718559.2:c.5948_5949delinsGA XP_006718622.1:p.Lys1983Arg
XM_006718560.2:c.5945_5946delinsGA XP_006718623.1:p.Lys1982Arg
XM_006718561.2:c.5948_5949delinsGA XP_006718624.1:p.Lys1983Arg
XM_011545044.1:c.6062_6063delinsGA XP_011543346.1:p.Lys2021Arg
XM_011545045.1:c.6056_6057delinsGA XP_011543347.1:p.Lys2019Arg
XM_011545046.1:c.6029_6030delinsGA XP_011543348.1:p.Lys2010Arg
XM_011545047.1:c.5966_5967delinsGA XP_011543349.1:p.Lys1989Arg
XM_011545048.1:c.5837_5838delinsGA XP_011543350.1:p.Lys1946Arg
XM_011545049.1:c.5825_5826delinsGA XP_011543351.1:p.Lys1942Arg
XM_011545050.1:c.5798_5799delinsGA XP_011543352.1:p.Lys1933Arg
XM_011545051.1:c.6062_6063delinsGA XP_011543353.1:p.Lys2021Arg
XR_949938.1:n.6382_6383delinsGA
XR_949941.1:n.6356_6357delinsGA
XM_011545044.2:c.6062_6063delinsGA XP_011543346.1:p.Lys2021Arg
XM_011545046.2:c.6152_6153delinsGA XP_011543348.2:p.Lys2051Arg
XM_011545050.2:c.5798_5799delinsGA XP_011543352.1:p.Lys1933Arg
XM_017017778.1:c.6146_6147delinsGA XP_016873267.1:p.Lys2049Arg
XM_017017779.1:c.6143_6144delinsGA XP_016873268.1:p.Lys2048Arg
XM_017017780.1:c.6152_6153delinsGA XP_016873269.1:p.Lys2051Arg
XM_017017781.1:c.6056_6057delinsGA XP_016873270.1:p.Lys2019Arg
XM_017017782.1:c.6038_6039delinsGA XP_016873271.1:p.Lys2013Arg
XM_017017783.1:c.6035_6036delinsGA XP_016873272.1:p.Lys2012Arg
XM_017017784.1:c.6035_6036delinsGA XP_016873273.1:p.Lys2012Arg
XM_017017785.1:c.5915_5916delinsGA XP_016873274.1:p.Lys1972Arg
XM_017017786.1:c.6152_6153delinsGA XP_016873275.1:p.Lys2051Arg
XM_017017788.1:c.6038_6039delinsGA XP_016873277.1:p.Lys2013Arg
XR_001747885.1:n.6141_6142delinsGA
XR_001747886.1:n.6082_6083delinsGA
XR_001747887.1:n.6127_6128delinsGA
NM_000260.4:c.6062_6063delinsGA MANE Select NP_000251.3:p.Lys2021Arg
NM_001127180.2:c.5948_5949delinsGA NP_001120652.1:p.Lys1983Arg
NM_001369365.1:c.5915_5916delinsGA NP_001356294.1:p.Lys1972Arg