Canonical Allele Identifier: CA2615262574

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77211210-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211215del , CM000673.2:g.77211215del	GRCh38
NC_000011.9:g.76922260del , CM000673.1:g.76922260del	GRCh37
NC_000011.8:g.76599908del	NCBI36
NG_009086.1:g.87951del
NG_009086.2:g.87970del

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6115del MANE Select	ENSP00000386331.3:p.Ala2039ArgfsTer2
ENST00000670577.1:c.3916del
ENST00000409619.6:c.5968del	ENSP00000386635.2:p.Ala1990ArgfsTer2
ENST00000409709.7:c.6115del	ENSP00000386331.3:p.Ala2039ArgfsTer2
ENST00000458169.2:c.3541del	ENSP00000417017.2:p.Ala1181ArgfsTer2
ENST00000458637.6:c.6001del	ENSP00000392185.2:p.Ala2001ArgfsTer2
ENST00000481328.7:n.3651del
ENST00000526863.2:n.25+304del
ENST00000605744.1:n.1582del
NM_000260.3:c.6115del	NP_000251.3:p.Ala2039ArgfsTer2
NM_001127180.1:c.6001del	NP_001120652.1:p.Ala2001ArgfsTer2
XM_005274012.2:c.5998del	XP_005274069.1:p.Ala2000ArgfsTer2
XM_006718558.2:c.6106del	XP_006718621.1:p.Ala2036ArgfsTer2
XM_006718559.2:c.6001del	XP_006718622.1:p.Ala2001ArgfsTer2
XM_006718560.2:c.5998del	XP_006718623.1:p.Ala2000ArgfsTer2
XM_006718561.2:c.6001del	XP_006718624.1:p.Ala2001ArgfsTer2
XM_011545044.1:c.6115del	XP_011543346.1:p.Ala2039ArgfsTer2
XM_011545045.1:c.6109del	XP_011543347.1:p.Ala2037ArgfsTer2
XM_011545046.1:c.6082del	XP_011543348.1:p.Ala2028ArgfsTer2
XM_011545047.1:c.6019del	XP_011543349.1:p.Ala2007ArgfsTer2
XM_011545048.1:c.5890del	XP_011543350.1:p.Ala1964ArgfsTer2
XM_011545049.1:c.5878del	XP_011543351.1:p.Ala1960ArgfsTer2
XM_011545050.1:c.5851del	XP_011543352.1:p.Ala1951ArgfsTer2
XM_011545051.1:c.6115del	XP_011543353.1:p.Ala2039ArgfsTer2
XR_949938.1:n.6435del
XR_949941.1:n.6409del
XM_011545044.2:c.6115del	XP_011543346.1:p.Ala2039ArgfsTer2
XM_011545046.2:c.6205del	XP_011543348.2:p.Ala2069ArgfsTer2
XM_011545050.2:c.5851del	XP_011543352.1:p.Ala1951ArgfsTer2
XM_017017778.1:c.6199del	XP_016873267.1:p.Ala2067ArgfsTer2
XM_017017779.1:c.6196del	XP_016873268.1:p.Ala2066ArgfsTer2
XM_017017780.1:c.6205del	XP_016873269.1:p.Ala2069ArgfsTer2
XM_017017781.1:c.6109del	XP_016873270.1:p.Ala2037ArgfsTer2
XM_017017782.1:c.6091del	XP_016873271.1:p.Ala2031ArgfsTer2
XM_017017783.1:c.6088del	XP_016873272.1:p.Ala2030ArgfsTer2
XM_017017784.1:c.6088del	XP_016873273.1:p.Ala2030ArgfsTer2
XM_017017785.1:c.5968del	XP_016873274.1:p.Ala1990ArgfsTer2
XM_017017786.1:c.6205del	XP_016873275.1:p.Ala2069ArgfsTer2
XM_017017788.1:c.6091del	XP_016873277.1:p.Ala2031ArgfsTer2
XR_001747885.1:n.6194del
XR_001747886.1:n.6135del
XR_001747887.1:n.6180del
NM_000260.4:c.6115del MANE Select	NP_000251.3:p.Ala2039ArgfsTer2
NM_001127180.2:c.6001del	NP_001120652.1:p.Ala2001ArgfsTer2
NM_001369365.1:c.5968del	NP_001356294.1:p.Ala1990ArgfsTer2