Canonical Allele Identifier: CA645584045

Gene: MYO7A

Linked Data

• COSMIC: COSM332211

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211310_77211311delinsAT , CM000673.2:g.77211310_77211311delinsAT	GRCh38
NC_000011.9:g.76922355_76922356delinsAT , CM000673.1:g.76922355_76922356delinsAT	GRCh37
NC_000011.8:g.76600003_76600004delinsAT	NCBI36
NG_009086.1:g.88046_88047delinsAT
NG_009086.2:g.88065_88066delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6210_6211delinsAT MANE Select	ENSP00000386331.3:p.Arg2071Ter
ENST00000670577.1:c.4011_4012delinsAT
ENST00000409619.6:c.6063_6064delinsAT	ENSP00000386635.2:p.Arg2022Ter
ENST00000409709.7:c.6210_6211delinsAT	ENSP00000386331.3:p.Arg2071Ter
ENST00000458169.2:c.3636_3637delinsAT	ENSP00000417017.2:p.Arg1213Ter
ENST00000458637.6:c.6096_6097delinsAT	ENSP00000392185.2:p.Arg2033Ter
ENST00000481328.7:n.3746_3747delinsAT
ENST00000526863.2:n.25+399_25+400delinsAT
ENST00000605744.1:n.1677_1678delinsAT
NM_000260.3:c.6210_6211delinsAT	NP_000251.3:p.Arg2071Ter
NM_001127180.1:c.6096_6097delinsAT	NP_001120652.1:p.Arg2033Ter
XM_005274012.2:c.6093_6094delinsAT	XP_005274069.1:p.Arg2032Ter
XM_006718558.2:c.6201_6202delinsAT	XP_006718621.1:p.Arg2068Ter
XM_006718559.2:c.6096_6097delinsAT	XP_006718622.1:p.Arg2033Ter
XM_006718560.2:c.6093_6094delinsAT	XP_006718623.1:p.Arg2032Ter
XM_006718561.2:c.6096_6097delinsAT	XP_006718624.1:p.Arg2033Ter
XM_011545044.1:c.6210_6211delinsAT	XP_011543346.1:p.Arg2071Ter
XM_011545045.1:c.6204_6205delinsAT	XP_011543347.1:p.Arg2069Ter
XM_011545046.1:c.6177_6178delinsAT	XP_011543348.1:p.Arg2060Ter
XM_011545047.1:c.6114_6115delinsAT	XP_011543349.1:p.Arg2039Ter
XM_011545048.1:c.5985_5986delinsAT	XP_011543350.1:p.Arg1996Ter
XM_011545049.1:c.5973_5974delinsAT	XP_011543351.1:p.Arg1992Ter
XM_011545050.1:c.5946_5947delinsAT	XP_011543352.1:p.Arg1983Ter
XM_011545051.1:c.6210_6211delinsAT	XP_011543353.1:p.Arg2071Ter
XR_949938.1:n.6530_6531delinsAT
XR_949941.1:n.6504_6505delinsAT
XM_011545044.2:c.6210_6211delinsAT	XP_011543346.1:p.Arg2071Ter
XM_011545046.2:c.6300_6301delinsAT	XP_011543348.2:p.Arg2101Ter
XM_011545050.2:c.5946_5947delinsAT	XP_011543352.1:p.Arg1983Ter
XM_017017778.1:c.6294_6295delinsAT	XP_016873267.1:p.Arg2099Ter
XM_017017779.1:c.6291_6292delinsAT	XP_016873268.1:p.Arg2098Ter
XM_017017780.1:c.6300_6301delinsAT	XP_016873269.1:p.Arg2101Ter
XM_017017781.1:c.6204_6205delinsAT	XP_016873270.1:p.Arg2069Ter
XM_017017782.1:c.6186_6187delinsAT	XP_016873271.1:p.Arg2063Ter
XM_017017783.1:c.6183_6184delinsAT	XP_016873272.1:p.Arg2062Ter
XM_017017784.1:c.6183_6184delinsAT	XP_016873273.1:p.Arg2062Ter
XM_017017785.1:c.6063_6064delinsAT	XP_016873274.1:p.Arg2022Ter
XM_017017786.1:c.6300_6301delinsAT	XP_016873275.1:p.Arg2101Ter
XM_017017788.1:c.6186_6187delinsAT	XP_016873277.1:p.Arg2063Ter
XR_001747885.1:n.6289_6290delinsAT
XR_001747887.1:n.6275_6276delinsAT
NM_000260.4:c.6210_6211delinsAT MANE Select	NP_000251.3:p.Arg2071Ter
NM_001127180.2:c.6096_6097delinsAT	NP_001120652.1:p.Arg2033Ter
NM_001369365.1:c.6063_6064delinsAT	NP_001356294.1:p.Arg2022Ter