Canonical Allele Identifier: CA2574931907

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 2959846
• ClinVar RCV Id: RCV003812021

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211214_77211215del , CM000673.2:g.77211214_77211215del	GRCh38
NC_000011.9:g.76922259_76922260del , CM000673.1:g.76922259_76922260del	GRCh37
NC_000011.8:g.76599907_76599908del	NCBI36
NG_009086.1:g.87950_87951del
NG_009086.2:g.87969_87970del

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6114_6115del MANE Select	ENSP00000386331.3:p.Leu2040AspfsTer?
ENST00000670577.1:c.3915_3916del
ENST00000409619.6:c.5967_5968del	ENSP00000386635.2:p.Leu1991AspfsTer?
ENST00000409709.7:c.6114_6115del	ENSP00000386331.3:p.Leu2040AspfsTer?
ENST00000458169.2:c.3540_3541del	ENSP00000417017.2:p.Leu1182AspfsTer?
ENST00000458637.6:c.6000_6001del	ENSP00000392185.2:p.Leu2002AspfsTer?
ENST00000481328.7:n.3650_3651del
ENST00000526863.2:n.25+303_25+304del
ENST00000605744.1:n.1581_1582del
NM_000260.3:c.6114_6115del	NP_000251.3:p.Leu2040AspfsTer?
NM_001127180.1:c.6000_6001del	NP_001120652.1:p.Leu2002AspfsTer?
XM_005274012.2:c.5997_5998del	XP_005274069.1:p.Leu2001AspfsTer?
XM_006718558.2:c.6105_6106del	XP_006718621.1:p.Leu2037AspfsTer?
XM_006718559.2:c.6000_6001del	XP_006718622.1:p.Leu2002AspfsTer?
XM_006718560.2:c.5997_5998del	XP_006718623.1:p.Leu2001AspfsTer?
XM_006718561.2:c.6000_6001del	XP_006718624.1:p.Leu2002AspfsTer?
XM_011545044.1:c.6114_6115del	XP_011543346.1:p.Leu2040AspfsTer?
XM_011545045.1:c.6108_6109del	XP_011543347.1:p.Leu2038AspfsTer?
XM_011545046.1:c.6081_6082del	XP_011543348.1:p.Leu2029AspfsTer?
XM_011545047.1:c.6018_6019del	XP_011543349.1:p.Leu2008AspfsTer?
XM_011545048.1:c.5889_5890del	XP_011543350.1:p.Leu1965AspfsTer?
XM_011545049.1:c.5877_5878del	XP_011543351.1:p.Leu1961AspfsTer?
XM_011545050.1:c.5850_5851del	XP_011543352.1:p.Leu1952AspfsTer?
XM_011545051.1:c.6114_6115del	XP_011543353.1:p.Leu2040AspfsTer?
XR_949938.1:n.6434_6435del
XR_949941.1:n.6408_6409del
XM_011545044.2:c.6114_6115del	XP_011543346.1:p.Leu2040AspfsTer?
XM_011545046.2:c.6204_6205del	XP_011543348.2:p.Leu2070AspfsTer?
XM_011545050.2:c.5850_5851del	XP_011543352.1:p.Leu1952AspfsTer?
XM_017017778.1:c.6198_6199del	XP_016873267.1:p.Leu2068AspfsTer?
XM_017017779.1:c.6195_6196del	XP_016873268.1:p.Leu2067AspfsTer?
XM_017017780.1:c.6204_6205del	XP_016873269.1:p.Leu2070AspfsTer?
XM_017017781.1:c.6108_6109del	XP_016873270.1:p.Leu2038AspfsTer?
XM_017017782.1:c.6090_6091del	XP_016873271.1:p.Leu2032AspfsTer?
XM_017017783.1:c.6087_6088del	XP_016873272.1:p.Leu2031AspfsTer?
XM_017017784.1:c.6087_6088del	XP_016873273.1:p.Leu2031AspfsTer?
XM_017017785.1:c.5967_5968del	XP_016873274.1:p.Leu1991AspfsTer?
XM_017017786.1:c.6204_6205del	XP_016873275.1:p.Leu2070AspfsTer?
XM_017017788.1:c.6090_6091del	XP_016873277.1:p.Leu2032AspfsTer?
XR_001747885.1:n.6193_6194del
XR_001747886.1:n.6134_6135del
XR_001747887.1:n.6179_6180del
NM_000260.4:c.6114_6115del MANE Select	NP_000251.3:p.Leu2040AspfsTer?
NM_001127180.2:c.6000_6001del	NP_001120652.1:p.Leu2002AspfsTer?
NM_001369365.1:c.5967_5968del	NP_001356294.1:p.Leu1991AspfsTer?