Canonical Allele Identifier: CA1984113425
Gene: MYO7A HGNC NCBI

Linked Data

dbSNP Id: rs1955276358

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77182088del , CM000673.2:g.77182088del GRCh38
NC_000011.8:g.76570782del NCBI36
NG_009086.1:g.58825del
NG_009086.2:g.58843del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.3042del MANE Select ENSP00000386331.3:p.His1015ThrfsTer?
ENST00000409893.6:c.1107del ENSP00000386689.2:p.His370ThrfsTer?
ENST00000670577.1:c.883del
ENST00000409619.6:c.3009del ENSP00000386635.2:p.His1004ThrfsTer?
ENST00000409709.7:c.3042del ENSP00000386331.3:p.His1015ThrfsTer?
ENST00000409893.5:c.3042del ENSP00000386689.1:p.His1015ThrfsTer?
ENST00000458169.2:c.585del ENSP00000417017.2:p.His196ThrfsTer?
ENST00000458637.6:c.3042del ENSP00000392185.2:p.His1015ThrfsTer?
ENST00000481328.7:n.585del
ENST00000620575.4:c.3042del ENSP00000477640.1:p.His1015ThrfsTer?
NM_000260.3:c.3042del NP_000251.3:p.His1015ThrfsTer?
NM_001127179.2:c.3042del NP_001120651.2:p.His1015ThrfsTer?
NM_001127180.1:c.3042del NP_001120652.1:p.His1015ThrfsTer?
XM_005274012.2:c.3042del XP_005274069.1:p.His1015ThrfsTer?
XM_006718558.2:c.3042del XP_006718621.1:p.His1015ThrfsTer?
XM_006718559.2:c.3042del XP_006718622.1:p.His1015ThrfsTer?
XM_006718560.2:c.3042del XP_006718623.1:p.His1015ThrfsTer?
XM_006718561.2:c.3042del XP_006718624.1:p.His1015ThrfsTer?
XM_011545044.1:c.3042del XP_011543346.1:p.His1015ThrfsTer?
XM_011545045.1:c.3042del XP_011543347.1:p.His1015ThrfsTer?
XM_011545046.1:c.3009del XP_011543348.1:p.His1004ThrfsTer?
XM_011545047.1:c.3042del XP_011543349.1:p.His1015ThrfsTer?
XM_011545048.1:c.2823del XP_011543350.1:p.His942ThrfsTer?
XM_011545049.1:c.2811del XP_011543351.1:p.His938ThrfsTer?
XM_011545050.1:c.2784del XP_011543352.1:p.His929ThrfsTer?
XM_011545051.1:c.3042del XP_011543353.1:p.His1015ThrfsTer?
XM_011545052.1:c.3042del XP_011543354.1:p.His1015ThrfsTer?
XR_949938.1:n.3362del
XR_949941.1:n.3362del
XR_949942.1:n.3364del
XR_949943.1:n.3364del
XM_011545044.2:c.3042del XP_011543346.1:p.His1015ThrfsTer?
XM_011545046.2:c.3132del XP_011543348.2:p.His1045ThrfsTer?
XM_011545050.2:c.2784del XP_011543352.1:p.His929ThrfsTer?
XM_017017778.1:c.3132del XP_016873267.1:p.His1045ThrfsTer?
XM_017017779.1:c.3132del XP_016873268.1:p.His1045ThrfsTer?
XM_017017780.1:c.3132del XP_016873269.1:p.His1045ThrfsTer?
XM_017017781.1:c.3132del XP_016873270.1:p.His1045ThrfsTer?
XM_017017782.1:c.3132del XP_016873271.1:p.His1045ThrfsTer?
XM_017017783.1:c.3132del XP_016873272.1:p.His1045ThrfsTer?
XM_017017784.1:c.3132del XP_016873273.1:p.His1045ThrfsTer?
XM_017017785.1:c.2901del XP_016873274.1:p.His968ThrfsTer?
XM_017017786.1:c.3132del XP_016873275.1:p.His1045ThrfsTer?
XM_017017787.1:c.3132del XP_016873276.1:p.His1045ThrfsTer?
XM_017017788.1:c.3132del XP_016873277.1:p.His1045ThrfsTer?
XR_001747885.1:n.3147del
XR_001747886.1:n.3147del
XR_001747887.1:n.3147del
XR_001747888.1:n.3147del
XR_001747889.1:n.3147del
NM_000260.4:c.3042del MANE Select NP_000251.3:p.His1015ThrfsTer?
NM_001127180.2:c.3042del NP_001120652.1:p.His1015ThrfsTer?
NM_001369365.1:c.3009del NP_001356294.1:p.His1004ThrfsTer?