Canonical Allele Identifier: CA2792790912
Gene: MYO7A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77207445_77207446del , CM000673.2:g.77207445_77207446del GRCh38
NC_000011.9:g.76918490_76918491del , CM000673.1:g.76918490_76918491del GRCh37
NC_000011.8:g.76596138_76596139del NCBI36
NG_009086.1:g.84181_84182del
NG_009086.2:g.84200_84201del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.5856+43_5856+44del MANE Select ENSP00000386331.3:n.5856+43_5856+44del
ENST00000670577.1:c.3683+43_3683+44del
ENST00000409619.6:c.5709+43_5709+44del ENSP00000386635.2:n.5709+43_5709+44del
ENST00000409709.7:c.5856+43_5856+44del ENSP00000386331.3:n.5856+43_5856+44del
ENST00000458169.2:c.3282+43_3282+44del ENSP00000417017.2:n.3282+43_3282+44del
ENST00000458637.6:c.5742+43_5742+44del ENSP00000392185.2:n.5742+43_5742+44del
ENST00000481328.7:n.3392+43_3392+44del
ENST00000605744.1:n.770+43_770+44del
NM_000260.3:c.5856+43_5856+44del NP_000251.3:n.5856+43_5856+44del
NM_001127180.1:c.5742+43_5742+44del NP_001120652.1:n.5742+43_5742+44del
XM_005274012.2:c.5739+43_5739+44del XP_005274069.1:n.5739+43_5739+44del
XM_006718558.2:c.5847+43_5847+44del XP_006718621.1:n.5847+43_5847+44del
XM_006718559.2:c.5742+43_5742+44del XP_006718622.1:n.5742+43_5742+44del
XM_006718560.2:c.5739+43_5739+44del XP_006718623.1:n.5739+43_5739+44del
XM_006718561.2:c.5742+43_5742+44del XP_006718624.1:n.5742+43_5742+44del
XM_011545044.1:c.5856+43_5856+44del XP_011543346.1:n.5856+43_5856+44del
XM_011545045.1:c.5850+43_5850+44del XP_011543347.1:n.5850+43_5850+44del
XM_011545046.1:c.5823+43_5823+44del XP_011543348.1:n.5823+43_5823+44del
XM_011545047.1:c.5760+43_5760+44del XP_011543349.1:n.5760+43_5760+44del
XM_011545048.1:c.5631+43_5631+44del XP_011543350.1:n.5631+43_5631+44del
XM_011545049.1:c.5619+43_5619+44del XP_011543351.1:n.5619+43_5619+44del
XM_011545050.1:c.5592+43_5592+44del XP_011543352.1:n.5592+43_5592+44del
XM_011545051.1:c.5856+43_5856+44del XP_011543353.1:n.5856+43_5856+44del
XR_949938.1:n.6176+43_6176+44del
XR_949941.1:n.6176+43_6176+44del
XM_011545044.2:c.5856+43_5856+44del XP_011543346.1:n.5856+43_5856+44del
XM_011545046.2:c.5946+43_5946+44del XP_011543348.2:n.5946+43_5946+44del
XM_011545050.2:c.5592+43_5592+44del XP_011543352.1:n.5592+43_5592+44del
XM_017017778.1:c.5940+43_5940+44del XP_016873267.1:n.5940+43_5940+44del
XM_017017779.1:c.5937+43_5937+44del XP_016873268.1:n.5937+43_5937+44del
XM_017017780.1:c.5946+43_5946+44del XP_016873269.1:n.5946+43_5946+44del
XM_017017781.1:c.5850+43_5850+44del XP_016873270.1:n.5850+43_5850+44del
XM_017017782.1:c.5832+43_5832+44del XP_016873271.1:n.5832+43_5832+44del
XM_017017783.1:c.5829+43_5829+44del XP_016873272.1:n.5829+43_5829+44del
XM_017017784.1:c.5829+43_5829+44del XP_016873273.1:n.5829+43_5829+44del
XM_017017785.1:c.5709+43_5709+44del XP_016873274.1:n.5709+43_5709+44del
XM_017017786.1:c.5946+43_5946+44del XP_016873275.1:n.5946+43_5946+44del
XM_017017788.1:c.5832+43_5832+44del XP_016873277.1:n.5832+43_5832+44del
XR_001747885.1:n.5961+43_5961+44del
XR_001747886.1:n.5876+43_5876+44del
XR_001747887.1:n.5947+43_5947+44del
NM_000260.4:c.5856+43_5856+44del MANE Select NP_000251.3:n.5856+43_5856+44del
NM_001127180.2:c.5742+43_5742+44del NP_001120652.1:n.5742+43_5742+44del
NM_001369365.1:c.5709+43_5709+44del NP_001356294.1:n.5709+43_5709+44del