Canonical Allele Identifier: CA2615255858
Gene: MYO7A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77208683_77208685del , CM000673.2:g.77208683_77208685del GRCh38
NC_000011.9:g.76919728_76919730del , CM000673.1:g.76919728_76919730del GRCh37
NC_000011.8:g.76597376_76597378del NCBI36
NG_009086.1:g.85419_85421del
NG_009086.2:g.85438_85440del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.5945-14_5945-12del MANE Select ENSP00000386331.3:n.5945-14_5945-12del
ENST00000670577.1:c.3772-40_3772-38del
ENST00000409619.6:c.5798-14_5798-12del ENSP00000386635.2:n.5798-14_5798-12del
ENST00000409709.7:c.5945-14_5945-12del ENSP00000386331.3:n.5945-14_5945-12del
ENST00000458169.2:c.3371-14_3371-12del ENSP00000417017.2:n.3371-14_3371-12del
ENST00000458637.6:c.5831-14_5831-12del ENSP00000392185.2:n.5831-14_5831-12del
ENST00000481328.7:n.3481-14_3481-12del
ENST00000605744.1:n.859-14_859-12del
NM_000260.3:c.5945-14_5945-12del NP_000251.3:n.5945-14_5945-12del
NM_001127180.1:c.5831-14_5831-12del NP_001120652.1:n.5831-14_5831-12del
XM_005274012.2:c.5828-14_5828-12del XP_005274069.1:n.5828-14_5828-12del
XM_006718558.2:c.5936-14_5936-12del XP_006718621.1:n.5936-14_5936-12del
XM_006718559.2:c.5831-14_5831-12del XP_006718622.1:n.5831-14_5831-12del
XM_006718560.2:c.5828-14_5828-12del XP_006718623.1:n.5828-14_5828-12del
XM_006718561.2:c.5831-14_5831-12del XP_006718624.1:n.5831-14_5831-12del
XM_011545044.1:c.5945-14_5945-12del XP_011543346.1:n.5945-14_5945-12del
XM_011545045.1:c.5939-14_5939-12del XP_011543347.1:n.5939-14_5939-12del
XM_011545046.1:c.5912-14_5912-12del XP_011543348.1:n.5912-14_5912-12del
XM_011545047.1:c.5849-14_5849-12del XP_011543349.1:n.5849-14_5849-12del
XM_011545048.1:c.5720-14_5720-12del XP_011543350.1:n.5720-14_5720-12del
XM_011545049.1:c.5708-14_5708-12del XP_011543351.1:n.5708-14_5708-12del
XM_011545050.1:c.5681-14_5681-12del XP_011543352.1:n.5681-14_5681-12del
XM_011545051.1:c.5945-14_5945-12del XP_011543353.1:n.5945-14_5945-12del
XR_949938.1:n.6265-14_6265-12del
XR_949941.1:n.6265-40_6265-38del
XM_011545044.2:c.5945-14_5945-12del XP_011543346.1:n.5945-14_5945-12del
XM_011545046.2:c.6035-14_6035-12del XP_011543348.2:n.6035-14_6035-12del
XM_011545050.2:c.5681-14_5681-12del XP_011543352.1:n.5681-14_5681-12del
XM_017017778.1:c.6029-14_6029-12del XP_016873267.1:n.6029-14_6029-12del
XM_017017779.1:c.6026-14_6026-12del XP_016873268.1:n.6026-14_6026-12del
XM_017017780.1:c.6035-14_6035-12del XP_016873269.1:n.6035-14_6035-12del
XM_017017781.1:c.5939-14_5939-12del XP_016873270.1:n.5939-14_5939-12del
XM_017017782.1:c.5921-14_5921-12del XP_016873271.1:n.5921-14_5921-12del
XM_017017783.1:c.5918-14_5918-12del XP_016873272.1:n.5918-14_5918-12del
XM_017017784.1:c.5918-14_5918-12del XP_016873273.1:n.5918-14_5918-12del
XM_017017785.1:c.5798-14_5798-12del XP_016873274.1:n.5798-14_5798-12del
XM_017017786.1:c.6035-14_6035-12del XP_016873275.1:n.6035-14_6035-12del
XM_017017788.1:c.5921-14_5921-12del XP_016873277.1:n.5921-14_5921-12del
XR_001747885.1:n.6050-40_6050-38del
XR_001747886.1:n.5965-14_5965-12del
XR_001747887.1:n.6036-40_6036-38del
NM_000260.4:c.5945-14_5945-12del MANE Select NP_000251.3:n.5945-14_5945-12del
NM_001127180.2:c.5831-14_5831-12del NP_001120652.1:n.5831-14_5831-12del
NM_001369365.1:c.5798-14_5798-12del NP_001356294.1:n.5798-14_5798-12del