Canonical Allele Identifier: CA2792769118
Gene: MYO7A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77172997_77172998del , CM000673.2:g.77172997_77172998del GRCh38
NC_000011.9:g.76884043_76884044del , CM000673.1:g.76884043_76884044del GRCh37
NC_000011.8:g.76561691_76561692del NCBI36
NG_009086.1:g.49734_49735del
NG_009086.2:g.49752_49753del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.1935+112_1935+113del MANE Select ENSP00000386331.3:n.1935+112_1935+113del
ENST00000409619.6:c.1902+112_1902+113del ENSP00000386635.2:n.1902+112_1902+113del
ENST00000409709.7:c.1935+112_1935+113del ENSP00000386331.3:n.1935+112_1935+113del
ENST00000409893.5:c.1935+112_1935+113del ENSP00000386689.1:n.1935+112_1935+113del
ENST00000458637.6:c.1935+112_1935+113del ENSP00000392185.2:n.1935+112_1935+113del
ENST00000620575.4:c.1935+112_1935+113del ENSP00000477640.1:n.1935+112_1935+113del
NM_000260.3:c.1935+112_1935+113del NP_000251.3:n.1935+112_1935+113del
NM_001127179.2:c.1935+112_1935+113del NP_001120651.2:n.1935+112_1935+113del
NM_001127180.1:c.1935+112_1935+113del NP_001120652.1:n.1935+112_1935+113del
XM_005274012.2:c.1935+112_1935+113del XP_005274069.1:n.1935+112_1935+113del
XM_006718558.2:c.1935+112_1935+113del XP_006718621.1:n.1935+112_1935+113del
XM_006718559.2:c.1935+112_1935+113del XP_006718622.1:n.1935+112_1935+113del
XM_006718560.2:c.1935+112_1935+113del XP_006718623.1:n.1935+112_1935+113del
XM_006718561.2:c.1935+112_1935+113del XP_006718624.1:n.1935+112_1935+113del
XM_011545044.1:c.1935+112_1935+113del XP_011543346.1:n.1935+112_1935+113del
XM_011545045.1:c.1935+112_1935+113del XP_011543347.1:n.1935+112_1935+113del
XM_011545046.1:c.1902+112_1902+113del XP_011543348.1:n.1902+112_1902+113del
XM_011545047.1:c.1935+112_1935+113del XP_011543349.1:n.1935+112_1935+113del
XM_011545048.1:c.1935+112_1935+113del XP_011543350.1:n.1935+112_1935+113del
XM_011545049.1:c.1704+112_1704+113del XP_011543351.1:n.1704+112_1704+113del
XM_011545050.1:c.1677+112_1677+113del XP_011543352.1:n.1677+112_1677+113del
XM_011545051.1:c.1935+112_1935+113del XP_011543353.1:n.1935+112_1935+113del
XM_011545052.1:c.1935+112_1935+113del XP_011543354.1:n.1935+112_1935+113del
XR_949938.1:n.2255+112_2255+113del
XR_949941.1:n.2255+112_2255+113del
XR_949942.1:n.2257+112_2257+113del
XR_949943.1:n.2257+112_2257+113del
XM_011545044.2:c.1935+112_1935+113del XP_011543346.1:n.1935+112_1935+113del
XM_011545046.2:c.2025+112_2025+113del XP_011543348.2:n.2025+112_2025+113del
XM_011545050.2:c.1677+112_1677+113del XP_011543352.1:n.1677+112_1677+113del
XM_017017778.1:c.2025+112_2025+113del XP_016873267.1:n.2025+112_2025+113del
XM_017017779.1:c.2025+112_2025+113del XP_016873268.1:n.2025+112_2025+113del
XM_017017780.1:c.2025+112_2025+113del XP_016873269.1:n.2025+112_2025+113del
XM_017017781.1:c.2025+112_2025+113del XP_016873270.1:n.2025+112_2025+113del
XM_017017782.1:c.2025+112_2025+113del XP_016873271.1:n.2025+112_2025+113del
XM_017017783.1:c.2025+112_2025+113del XP_016873272.1:n.2025+112_2025+113del
XM_017017784.1:c.2025+112_2025+113del XP_016873273.1:n.2025+112_2025+113del
XM_017017785.1:c.1794+112_1794+113del XP_016873274.1:n.1794+112_1794+113del
XM_017017786.1:c.2025+112_2025+113del XP_016873275.1:n.2025+112_2025+113del
XM_017017787.1:c.2025+112_2025+113del XP_016873276.1:n.2025+112_2025+113del
XM_017017788.1:c.2025+112_2025+113del XP_016873277.1:n.2025+112_2025+113del
XR_001747885.1:n.2040+112_2040+113del
XR_001747886.1:n.2040+112_2040+113del
XR_001747887.1:n.2040+112_2040+113del
XR_001747888.1:n.2040+112_2040+113del
XR_001747889.1:n.2040+112_2040+113del
NM_000260.4:c.1935+112_1935+113del MANE Select NP_000251.3:n.1935+112_1935+113del
NM_001127180.2:c.1935+112_1935+113del NP_001120652.1:n.1935+112_1935+113del
NM_001369365.1:c.1902+112_1902+113del NP_001356294.1:n.1902+112_1902+113del
Search 100 bp 5'
Search 100 bp 3'