Canonical Allele Identifier: CA2792769265

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77174787_77174790del , CM000673.2:g.77174787_77174790del	GRCh38
NC_000011.9:g.76885833_76885836del , CM000673.1:g.76885833_76885836del	GRCh37
NC_000011.8:g.76563481_76563484del	NCBI36
NG_009086.1:g.51524_51527del
NG_009086.2:g.51542_51545del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.1967_1970del MANE Select	ENSP00000386331.3:p.Leu656ArgfsTer5
ENST00000409893.6:c.32_35del	ENSP00000386689.2:p.Leu11ArgfsTer5
ENST00000409619.6:c.1934_1937del	ENSP00000386635.2:p.Leu645ArgfsTer5
ENST00000409709.7:c.1967_1970del	ENSP00000386331.3:p.Leu656ArgfsTer5
ENST00000409893.5:c.1967_1970del	ENSP00000386689.1:p.Leu656ArgfsTer5
ENST00000458637.6:c.1967_1970del	ENSP00000392185.2:p.Leu656ArgfsTer5
ENST00000620575.4:c.1967_1970del	ENSP00000477640.1:p.Leu656ArgfsTer5
NM_000260.3:c.1967_1970del	NP_000251.3:p.Leu656ArgfsTer5
NM_001127179.2:c.1967_1970del	NP_001120651.2:p.Leu656ArgfsTer5
NM_001127180.1:c.1967_1970del	NP_001120652.1:p.Leu656ArgfsTer5
XM_005274012.2:c.1967_1970del	XP_005274069.1:p.Leu656ArgfsTer5
XM_006718558.2:c.1967_1970del	XP_006718621.1:p.Leu656ArgfsTer5
XM_006718559.2:c.1967_1970del	XP_006718622.1:p.Leu656ArgfsTer5
XM_006718560.2:c.1967_1970del	XP_006718623.1:p.Leu656ArgfsTer5
XM_006718561.2:c.1967_1970del	XP_006718624.1:p.Leu656ArgfsTer5
XM_011545044.1:c.1967_1970del	XP_011543346.1:p.Leu656ArgfsTer5
XM_011545045.1:c.1967_1970del	XP_011543347.1:p.Leu656ArgfsTer5
XM_011545046.1:c.1934_1937del	XP_011543348.1:p.Leu645ArgfsTer5
XM_011545047.1:c.1967_1970del	XP_011543349.1:p.Leu656ArgfsTer5
XM_011545048.1:c.1967_1970del	XP_011543350.1:p.Leu656ArgfsTer5
XM_011545049.1:c.1736_1739del	XP_011543351.1:p.Leu579ArgfsTer5
XM_011545050.1:c.1709_1712del	XP_011543352.1:p.Leu570ArgfsTer5
XM_011545051.1:c.1967_1970del	XP_011543353.1:p.Leu656ArgfsTer5
XM_011545052.1:c.1967_1970del	XP_011543354.1:p.Leu656ArgfsTer5
XR_949938.1:n.2287_2290del
XR_949941.1:n.2287_2290del
XR_949942.1:n.2289_2292del
XR_949943.1:n.2289_2292del
XM_011545044.2:c.1967_1970del	XP_011543346.1:p.Leu656ArgfsTer5
XM_011545046.2:c.2057_2060del	XP_011543348.2:p.Leu686ArgfsTer5
XM_011545050.2:c.1709_1712del	XP_011543352.1:p.Leu570ArgfsTer5
XM_017017778.1:c.2057_2060del	XP_016873267.1:p.Leu686ArgfsTer5
XM_017017779.1:c.2057_2060del	XP_016873268.1:p.Leu686ArgfsTer5
XM_017017780.1:c.2057_2060del	XP_016873269.1:p.Leu686ArgfsTer5
XM_017017781.1:c.2057_2060del	XP_016873270.1:p.Leu686ArgfsTer5
XM_017017782.1:c.2057_2060del	XP_016873271.1:p.Leu686ArgfsTer5
XM_017017783.1:c.2057_2060del	XP_016873272.1:p.Leu686ArgfsTer5
XM_017017784.1:c.2057_2060del	XP_016873273.1:p.Leu686ArgfsTer5
XM_017017785.1:c.1826_1829del	XP_016873274.1:p.Leu609ArgfsTer5
XM_017017786.1:c.2057_2060del	XP_016873275.1:p.Leu686ArgfsTer5
XM_017017787.1:c.2057_2060del	XP_016873276.1:p.Leu686ArgfsTer5
XM_017017788.1:c.2057_2060del	XP_016873277.1:p.Leu686ArgfsTer5
XR_001747885.1:n.2072_2075del
XR_001747886.1:n.2072_2075del
XR_001747887.1:n.2072_2075del
XR_001747888.1:n.2072_2075del
XR_001747889.1:n.2072_2075del
NM_000260.4:c.1967_1970del MANE Select	NP_000251.3:p.Leu656ArgfsTer5
NM_001127180.2:c.1967_1970del	NP_001120652.1:p.Leu656ArgfsTer5
NM_001369365.1:c.1934_1937del	NP_001356294.1:p.Leu645ArgfsTer5