Canonical Allele Identifier: CA2615268336

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77207309-CACCAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77207310_77207315del , CM000673.2:g.77207310_77207315del	GRCh38
NC_000011.9:g.76918355_76918360del , CM000673.1:g.76918355_76918360del	GRCh37
NC_000011.8:g.76596003_76596008del	NCBI36
NG_009086.1:g.84046_84051del
NG_009086.2:g.84065_84070del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5764_5769del MANE Select	ENSP00000386331.3:p.Thr1922_Lys1923del
ENST00000670577.1:c.3591_3596del
ENST00000409619.6:c.5617_5622del	ENSP00000386635.2:p.Thr1873_Lys1874del
ENST00000409709.7:c.5764_5769del	ENSP00000386331.3:p.Thr1922_Lys1923del
ENST00000458169.2:c.3190_3195del	ENSP00000417017.2:p.Thr1064_Lys1065del
ENST00000458637.6:c.5650_5655del	ENSP00000392185.2:p.Thr1884_Lys1885del
ENST00000481328.7:n.3300_3305del
ENST00000605744.1:n.678_683del
NM_000260.3:c.5764_5769del	NP_000251.3:p.Thr1922_Lys1923del
NM_001127180.1:c.5650_5655del	NP_001120652.1:p.Thr1884_Lys1885del
XM_005274012.2:c.5647_5652del	XP_005274069.1:p.Thr1883_Lys1884del
XM_006718558.2:c.5755_5760del	XP_006718621.1:p.Thr1919_Lys1920del
XM_006718559.2:c.5650_5655del	XP_006718622.1:p.Thr1884_Lys1885del
XM_006718560.2:c.5647_5652del	XP_006718623.1:p.Thr1883_Lys1884del
XM_006718561.2:c.5650_5655del	XP_006718624.1:p.Thr1884_Lys1885del
XM_011545044.1:c.5764_5769del	XP_011543346.1:p.Thr1922_Lys1923del
XM_011545045.1:c.5758_5763del	XP_011543347.1:p.Thr1920_Lys1921del
XM_011545046.1:c.5731_5736del	XP_011543348.1:p.Thr1911_Lys1912del
XM_011545047.1:c.5668_5673del	XP_011543349.1:p.Thr1890_Lys1891del
XM_011545048.1:c.5539_5544del	XP_011543350.1:p.Thr1847_Lys1848del
XM_011545049.1:c.5527_5532del	XP_011543351.1:p.Thr1843_Lys1844del
XM_011545050.1:c.5500_5505del	XP_011543352.1:p.Thr1834_Lys1835del
XM_011545051.1:c.5764_5769del	XP_011543353.1:p.Thr1922_Lys1923del
XR_949938.1:n.6084_6089del
XR_949941.1:n.6084_6089del
XM_011545044.2:c.5764_5769del	XP_011543346.1:p.Thr1922_Lys1923del
XM_011545046.2:c.5854_5859del	XP_011543348.2:p.Thr1952_Lys1953del
XM_011545050.2:c.5500_5505del	XP_011543352.1:p.Thr1834_Lys1835del
XM_017017778.1:c.5848_5853del	XP_016873267.1:p.Thr1950_Lys1951del
XM_017017779.1:c.5845_5850del	XP_016873268.1:p.Thr1949_Lys1950del
XM_017017780.1:c.5854_5859del	XP_016873269.1:p.Thr1952_Lys1953del
XM_017017781.1:c.5758_5763del	XP_016873270.1:p.Thr1920_Lys1921del
XM_017017782.1:c.5740_5745del	XP_016873271.1:p.Thr1914_Lys1915del
XM_017017783.1:c.5737_5742del	XP_016873272.1:p.Thr1913_Lys1914del
XM_017017784.1:c.5737_5742del	XP_016873273.1:p.Thr1913_Lys1914del
XM_017017785.1:c.5617_5622del	XP_016873274.1:p.Thr1873_Lys1874del
XM_017017786.1:c.5854_5859del	XP_016873275.1:p.Thr1952_Lys1953del
XM_017017788.1:c.5740_5745del	XP_016873277.1:p.Thr1914_Lys1915del
XR_001747885.1:n.5869_5874del
XR_001747886.1:n.5784_5789del
XR_001747887.1:n.5855_5860del
NM_000260.4:c.5764_5769del MANE Select	NP_000251.3:p.Thr1922_Lys1923del
NM_001127180.2:c.5650_5655del	NP_001120652.1:p.Thr1884_Lys1885del
NM_001369365.1:c.5617_5622del	NP_001356294.1:p.Thr1873_Lys1874del