Canonical Allele Identifier: CA132294
Gene: MYO7A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77184727_77184748del , CM000673.2:g.77184727_77184748del GRCh38
NC_000011.9:g.76895772_76895793del , CM000673.1:g.76895772_76895793del GRCh37
NC_000011.8:g.76573420_76573441del NCBI36
NG_009086.1:g.61463_61484del
NG_009086.2:g.61482_61503del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.3503+12_3503+33del MANE Select ENSP00000386331.3:n.3503+12_3503+33del
ENST00000409893.6:c.1580_1601del ENSP00000386689.2:p.Gly527GlufsTer?
ENST00000670577.1:c.1344+12_1344+33del
ENST00000409619.6:c.3470+12_3470+33del ENSP00000386635.2:n.3470+12_3470+33del
ENST00000409709.7:c.3503+12_3503+33del ENSP00000386331.3:n.3503+12_3503+33del
ENST00000409893.5:c.3515_3536del ENSP00000386689.1:p.Gly1172GlufsTer?
ENST00000458169.2:c.1046+12_1046+33del ENSP00000417017.2:n.1046+12_1046+33del
ENST00000458637.6:c.3503+12_3503+33del ENSP00000392185.2:n.3503+12_3503+33del
ENST00000467137.1:n.30+12_30+33del
ENST00000481328.7:n.1046+12_1046+33del
ENST00000620575.4:c.3501-8_3514del
NM_000260.3:c.3503+12_3503+33del NP_000251.3:n.3503+12_3503+33del
NM_001127179.2:c.3515_3536del NP_001120651.2:p.Gly1172GlufsTer?
NM_001127180.1:c.3503+12_3503+33del NP_001120652.1:n.3503+12_3503+33del
XM_005274012.2:c.3503+12_3503+33del XP_005274069.1:n.3503+12_3503+33del
XM_006718558.2:c.3503+12_3503+33del XP_006718621.1:n.3503+12_3503+33del
XM_006718559.2:c.3503+12_3503+33del XP_006718622.1:n.3503+12_3503+33del
XM_006718560.2:c.3503+12_3503+33del XP_006718623.1:n.3503+12_3503+33del
XM_006718561.2:c.3503+12_3503+33del XP_006718624.1:n.3503+12_3503+33del
XM_011545044.1:c.3503+12_3503+33del XP_011543346.1:n.3503+12_3503+33del
XM_011545045.1:c.3503+12_3503+33del XP_011543347.1:n.3503+12_3503+33del
XM_011545046.1:c.3470+12_3470+33del XP_011543348.1:n.3470+12_3470+33del
XM_011545047.1:c.3413+12_3413+33del XP_011543349.1:n.3413+12_3413+33del
XM_011545048.1:c.3284+12_3284+33del XP_011543350.1:n.3284+12_3284+33del
XM_011545049.1:c.3272+12_3272+33del XP_011543351.1:n.3272+12_3272+33del
XM_011545050.1:c.3245+12_3245+33del XP_011543352.1:n.3245+12_3245+33del
XM_011545051.1:c.3503+12_3503+33del XP_011543353.1:n.3503+12_3503+33del
XM_011545052.1:c.3503+12_3503+33del XP_011543354.1:n.3503+12_3503+33del
XR_949938.1:n.3823+12_3823+33del
XR_949941.1:n.3823+12_3823+33del
XR_949942.1:n.3825+12_3825+33del
XR_949943.1:n.3825+12_3825+33del
XM_011545044.2:c.3503+12_3503+33del XP_011543346.1:n.3503+12_3503+33del
XM_011545046.2:c.3593+12_3593+33del XP_011543348.2:n.3593+12_3593+33del
XM_011545050.2:c.3245+12_3245+33del XP_011543352.1:n.3245+12_3245+33del
XM_017017778.1:c.3593+12_3593+33del XP_016873267.1:n.3593+12_3593+33del
XM_017017779.1:c.3593+12_3593+33del XP_016873268.1:n.3593+12_3593+33del
XM_017017780.1:c.3593+12_3593+33del XP_016873269.1:n.3593+12_3593+33del
XM_017017781.1:c.3503+12_3503+33del XP_016873270.1:n.3503+12_3503+33del
XM_017017782.1:c.3593+12_3593+33del XP_016873271.1:n.3593+12_3593+33del
XM_017017783.1:c.3593+12_3593+33del XP_016873272.1:n.3593+12_3593+33del
XM_017017784.1:c.3593+12_3593+33del XP_016873273.1:n.3593+12_3593+33del
XM_017017785.1:c.3362+12_3362+33del XP_016873274.1:n.3362+12_3362+33del
XM_017017786.1:c.3593+12_3593+33del XP_016873275.1:n.3593+12_3593+33del
XM_017017787.1:c.3593+12_3593+33del XP_016873276.1:n.3593+12_3593+33del
XM_017017788.1:c.3593+12_3593+33del XP_016873277.1:n.3593+12_3593+33del
XR_001747885.1:n.3608+12_3608+33del
XR_001747886.1:n.3608+12_3608+33del
XR_001747887.1:n.3608+12_3608+33del
XR_001747888.1:n.3608+12_3608+33del
XR_001747889.1:n.3608+12_3608+33del
NM_000260.4:c.3503+12_3503+33del MANE Select NP_000251.3:n.3503+12_3503+33del
NM_001127180.2:c.3503+12_3503+33del NP_001120652.1:n.3503+12_3503+33del
NM_001369365.1:c.3470+12_3470+33del NP_001356294.1:n.3470+12_3470+33del
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