Canonical Allele Identifier: CA2792788285
Gene: MYO7A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77210989_77211131del , CM000673.2:g.77210989_77211131del GRCh38
NC_000011.9:g.76922034_76922176del , CM000673.1:g.76922034_76922176del GRCh37
NC_000011.8:g.76599682_76599824del NCBI36
NG_009086.1:g.87725_87867del
NG_009086.2:g.87744_87886del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.6052-163_6052-21del MANE Select ENSP00000386331.3:n.6052-163_6052-21del
ENST00000670577.1:c.3853-163_3853-21del
ENST00000409619.6:c.5905-163_5905-21del ENSP00000386635.2:n.5905-163_5905-21del
ENST00000409709.7:c.6052-163_6052-21del ENSP00000386331.3:n.6052-163_6052-21del
ENST00000458169.2:c.3478-163_3478-21del ENSP00000417017.2:n.3478-163_3478-21del
ENST00000458637.6:c.5938-163_5938-21del ENSP00000392185.2:n.5938-163_5938-21del
ENST00000481328.7:n.3588-163_3588-21del
ENST00000526863.2:n.25+78_25+220del
ENST00000605744.1:n.1519-163_1519-21del
NM_000260.3:c.6052-163_6052-21del NP_000251.3:n.6052-163_6052-21del
NM_001127180.1:c.5938-163_5938-21del NP_001120652.1:n.5938-163_5938-21del
XM_005274012.2:c.5935-163_5935-21del XP_005274069.1:n.5935-163_5935-21del
XM_006718558.2:c.6043-163_6043-21del XP_006718621.1:n.6043-163_6043-21del
XM_006718559.2:c.5938-163_5938-21del XP_006718622.1:n.5938-163_5938-21del
XM_006718560.2:c.5935-163_5935-21del XP_006718623.1:n.5935-163_5935-21del
XM_006718561.2:c.5938-163_5938-21del XP_006718624.1:n.5938-163_5938-21del
XM_011545044.1:c.6052-163_6052-21del XP_011543346.1:n.6052-163_6052-21del
XM_011545045.1:c.6046-163_6046-21del XP_011543347.1:n.6046-163_6046-21del
XM_011545046.1:c.6019-163_6019-21del XP_011543348.1:n.6019-163_6019-21del
XM_011545047.1:c.5956-163_5956-21del XP_011543349.1:n.5956-163_5956-21del
XM_011545048.1:c.5827-163_5827-21del XP_011543350.1:n.5827-163_5827-21del
XM_011545049.1:c.5815-163_5815-21del XP_011543351.1:n.5815-163_5815-21del
XM_011545050.1:c.5788-163_5788-21del XP_011543352.1:n.5788-163_5788-21del
XM_011545051.1:c.6052-163_6052-21del XP_011543353.1:n.6052-163_6052-21del
XR_949938.1:n.6372-163_6372-21del
XR_949941.1:n.6346-163_6346-21del
XM_011545044.2:c.6052-163_6052-21del XP_011543346.1:n.6052-163_6052-21del
XM_011545046.2:c.6142-163_6142-21del XP_011543348.2:n.6142-163_6142-21del
XM_011545050.2:c.5788-163_5788-21del XP_011543352.1:n.5788-163_5788-21del
XM_017017778.1:c.6136-163_6136-21del XP_016873267.1:n.6136-163_6136-21del
XM_017017779.1:c.6133-163_6133-21del XP_016873268.1:n.6133-163_6133-21del
XM_017017780.1:c.6142-163_6142-21del XP_016873269.1:n.6142-163_6142-21del
XM_017017781.1:c.6046-163_6046-21del XP_016873270.1:n.6046-163_6046-21del
XM_017017782.1:c.6028-163_6028-21del XP_016873271.1:n.6028-163_6028-21del
XM_017017783.1:c.6025-163_6025-21del XP_016873272.1:n.6025-163_6025-21del
XM_017017784.1:c.6025-163_6025-21del XP_016873273.1:n.6025-163_6025-21del
XM_017017785.1:c.5905-163_5905-21del XP_016873274.1:n.5905-163_5905-21del
XM_017017786.1:c.6142-163_6142-21del XP_016873275.1:n.6142-163_6142-21del
XM_017017788.1:c.6028-163_6028-21del XP_016873277.1:n.6028-163_6028-21del
XR_001747885.1:n.6131-163_6131-21del
XR_001747886.1:n.6072-163_6072-21del
XR_001747887.1:n.6117-163_6117-21del
NM_000260.4:c.6052-163_6052-21del MANE Select NP_000251.3:n.6052-163_6052-21del
NM_001127180.2:c.5938-163_5938-21del NP_001120652.1:n.5938-163_5938-21del
NM_001369365.1:c.5905-163_5905-21del NP_001356294.1:n.5905-163_5905-21del