Canonical Allele Identifier: CA1984113984
Community Standard Title: NM_000260.4(MYO7A):c.3136dup (p.Leu1046ProfsTer9)
Gene: MYO7A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77182451dup , CM000673.2:g.77182451dup GRCh38
NC_000011.9:g.76893496dup , CM000673.1:g.76893496dup GRCh37
NC_000011.8:g.76571144dup NCBI36
NG_009086.1:g.59187dup
NG_009086.2:g.59206dup

Transcript Alleles

HGVS Amino-acid Change
NM_000260.4:c.3136dup MANE Select NP_000251.3:p.Leu1046ProfsTer9
ENST00000409709.9:c.3136dup MANE Select ENSP00000386331.3:p.Leu1046ProfsTer9
NM_000260.3:c.3136dup NP_000251.3:p.Leu1046ProfsTer9
NM_001127179.2:c.3136dup NP_001120651.2:p.Leu1046ProfsTer9
NM_001127180.1:c.3136dup NP_001120652.1:p.Leu1046ProfsTer9
NM_001127180.2:c.3136dup NP_001120652.1:p.Leu1046ProfsTer9
NM_001369365.1:c.3103dup NP_001356294.1:p.Leu1035ProfsTer9
ENST00000409619.6:c.3103dup ENSP00000386635.2:p.Leu1035ProfsTer9
ENST00000409709.7:c.3136dup ENSP00000386331.3:p.Leu1046ProfsTer9
ENST00000409893.5:c.3136dup ENSP00000386689.1:p.Leu1046ProfsTer9
ENST00000409893.6:c.1201dup ENSP00000386689.2:p.Leu401ProfsTer9
ENST00000458169.2:c.679dup ENSP00000417017.2:p.Leu227ProfsTer9
ENST00000458637.6:c.3136dup ENSP00000392185.2:p.Leu1046ProfsTer9
ENST00000481328.7:n.679dup
ENST00000620575.4:c.3136dup ENSP00000477640.1:p.Leu1046ProfsTer9
ENST00000670577.1:c.977dup
XM_005274012.2:c.3136dup XP_005274069.1:p.Leu1046ProfsTer9
XM_006718558.2:c.3136dup XP_006718621.1:p.Leu1046ProfsTer9
XM_006718559.2:c.3136dup XP_006718622.1:p.Leu1046ProfsTer9
XM_006718560.2:c.3136dup XP_006718623.1:p.Leu1046ProfsTer9
XM_006718561.2:c.3136dup XP_006718624.1:p.Leu1046ProfsTer9
XM_011545044.1:c.3136dup XP_011543346.1:p.Leu1046ProfsTer9
XM_011545044.2:c.3136dup XP_011543346.1:p.Leu1046ProfsTer9
XM_011545045.1:c.3136dup XP_011543347.1:p.Leu1046ProfsTer9
XM_011545046.1:c.3103dup XP_011543348.1:p.Leu1035ProfsTer9
XM_011545046.2:c.3226dup XP_011543348.2:p.Leu1076ProfsTer9
XM_011545047.1:c.3136dup XP_011543349.1:p.Leu1046ProfsTer9
XM_011545048.1:c.2917dup XP_011543350.1:p.Leu973ProfsTer9
XM_011545049.1:c.2905dup XP_011543351.1:p.Leu969ProfsTer9
XM_011545050.1:c.2878dup XP_011543352.1:p.Leu960ProfsTer9
XM_011545050.2:c.2878dup XP_011543352.1:p.Leu960ProfsTer9
XM_011545051.1:c.3136dup XP_011543353.1:p.Leu1046ProfsTer9
XM_011545052.1:c.3136dup XP_011543354.1:p.Leu1046ProfsTer9
XM_017017778.1:c.3226dup XP_016873267.1:p.Leu1076ProfsTer9
XM_017017779.1:c.3226dup XP_016873268.1:p.Leu1076ProfsTer9
XM_017017780.1:c.3226dup XP_016873269.1:p.Leu1076ProfsTer9
XM_017017781.1:c.3226dup XP_016873270.1:p.Leu1076ProfsTer9
XM_017017782.1:c.3226dup XP_016873271.1:p.Leu1076ProfsTer9
XM_017017783.1:c.3226dup XP_016873272.1:p.Leu1076ProfsTer9
XM_017017784.1:c.3226dup XP_016873273.1:p.Leu1076ProfsTer9
XM_017017785.1:c.2995dup XP_016873274.1:p.Leu999ProfsTer9
XM_017017786.1:c.3226dup XP_016873275.1:p.Leu1076ProfsTer9
XM_017017787.1:c.3226dup XP_016873276.1:p.Leu1076ProfsTer9
XM_017017788.1:c.3226dup XP_016873277.1:p.Leu1076ProfsTer9
XR_001747885.1:n.3241dup
XR_001747886.1:n.3241dup
XR_001747887.1:n.3241dup
XR_001747888.1:n.3241dup
XR_001747889.1:n.3241dup
XR_949938.1:n.3456dup
XR_949941.1:n.3456dup
XR_949942.1:n.3458dup
XR_949943.1:n.3458dup