Canonical Allele Identifier: CA2615268384
Gene: MYO7A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77207359del , CM000673.2:g.77207359del GRCh38
NC_000011.9:g.76918404del , CM000673.1:g.76918404del GRCh37
NC_000011.8:g.76596052del NCBI36
NG_009086.1:g.84095del
NG_009086.2:g.84114del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.5813del MANE Select ENSP00000386331.3:p.Lys1938SerfsTer?
ENST00000670577.1:c.3640del
ENST00000409619.6:c.5666del ENSP00000386635.2:p.Lys1889SerfsTer?
ENST00000409709.7:c.5813del ENSP00000386331.3:p.Lys1938SerfsTer?
ENST00000458169.2:c.3239del ENSP00000417017.2:p.Lys1080SerfsTer?
ENST00000458637.6:c.5699del ENSP00000392185.2:p.Lys1900SerfsTer?
ENST00000481328.7:n.3349del
ENST00000605744.1:n.727del
NM_000260.3:c.5813del NP_000251.3:p.Lys1938SerfsTer?
NM_001127180.1:c.5699del NP_001120652.1:p.Lys1900SerfsTer?
XM_005274012.2:c.5696del XP_005274069.1:p.Lys1899SerfsTer?
XM_006718558.2:c.5804del XP_006718621.1:p.Lys1935SerfsTer?
XM_006718559.2:c.5699del XP_006718622.1:p.Lys1900SerfsTer?
XM_006718560.2:c.5696del XP_006718623.1:p.Lys1899SerfsTer?
XM_006718561.2:c.5699del XP_006718624.1:p.Lys1900SerfsTer?
XM_011545044.1:c.5813del XP_011543346.1:p.Lys1938SerfsTer?
XM_011545045.1:c.5807del XP_011543347.1:p.Lys1936SerfsTer?
XM_011545046.1:c.5780del XP_011543348.1:p.Lys1927SerfsTer?
XM_011545047.1:c.5717del XP_011543349.1:p.Lys1906SerfsTer?
XM_011545048.1:c.5588del XP_011543350.1:p.Lys1863SerfsTer?
XM_011545049.1:c.5576del XP_011543351.1:p.Lys1859SerfsTer?
XM_011545050.1:c.5549del XP_011543352.1:p.Lys1850SerfsTer?
XM_011545051.1:c.5813del XP_011543353.1:p.Lys1938SerfsTer?
XR_949938.1:n.6133del
XR_949941.1:n.6133del
XM_011545044.2:c.5813del XP_011543346.1:p.Lys1938SerfsTer?
XM_011545046.2:c.5903del XP_011543348.2:p.Lys1968SerfsTer?
XM_011545050.2:c.5549del XP_011543352.1:p.Lys1850SerfsTer?
XM_017017778.1:c.5897del XP_016873267.1:p.Lys1966SerfsTer?
XM_017017779.1:c.5894del XP_016873268.1:p.Lys1965SerfsTer?
XM_017017780.1:c.5903del XP_016873269.1:p.Lys1968SerfsTer?
XM_017017781.1:c.5807del XP_016873270.1:p.Lys1936SerfsTer?
XM_017017782.1:c.5789del XP_016873271.1:p.Lys1930SerfsTer?
XM_017017783.1:c.5786del XP_016873272.1:p.Lys1929SerfsTer?
XM_017017784.1:c.5786del XP_016873273.1:p.Lys1929SerfsTer?
XM_017017785.1:c.5666del XP_016873274.1:p.Lys1889SerfsTer?
XM_017017786.1:c.5903del XP_016873275.1:p.Lys1968SerfsTer?
XM_017017788.1:c.5789del XP_016873277.1:p.Lys1930SerfsTer?
XR_001747885.1:n.5918del
XR_001747886.1:n.5833del
XR_001747887.1:n.5904del
NM_000260.4:c.5813del MANE Select NP_000251.3:p.Lys1938SerfsTer?
NM_001127180.2:c.5699del NP_001120652.1:p.Lys1900SerfsTer?
NM_001369365.1:c.5666del NP_001356294.1:p.Lys1889SerfsTer?