Canonical Allele Identifier: CA658656130

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 11849
• ClinVar RCV Id: RCV000012623
• dbSNP Id: rs1555062984
• MyVariant Identifiers: chr11:g.76867967_76867972del (hg19) ; chr11:g.77156921_77156926del (hg38)
• PubMed: PMID:7568224

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77156921_77156926del , CM000673.2:g.77156921_77156926del	GRCh38
NC_000011.9:g.76867967_76867972del , CM000673.1:g.76867967_76867972del	GRCh37
NC_000011.8:g.76545615_76545620del	NCBI36
NG_009086.1:g.33658_33663del
NG_009086.2:g.33676_33681del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.652_657del MANE Select	ENSP00000386331.3:p.Asp218_Ile219del
ENST00000409619.6:c.619_624del	ENSP00000386635.2:p.Asp207_Ile208del
ENST00000409709.7:c.652_657del	ENSP00000386331.3:p.Asp218_Ile219del
ENST00000409893.5:c.652_657del	ENSP00000386689.1:p.Asp218_Ile219del
ENST00000458637.6:c.652_657del	ENSP00000392185.2:p.Asp218_Ile219del
ENST00000620575.4:c.652_657del	ENSP00000477640.1:p.Asp218_Ile219del
NM_000260.3:c.652_657del	NP_000251.3:p.Asp218_Ile219del
NM_001127179.2:c.652_657del	NP_001120651.2:p.Asp218_Ile219del
NM_001127180.1:c.652_657del	NP_001120652.1:p.Asp218_Ile219del
XM_005274012.2:c.652_657del	XP_005274069.1:p.Asp218_Ile219del
XM_006718558.2:c.652_657del	XP_006718621.1:p.Asp218_Ile219del
XM_006718559.2:c.652_657del	XP_006718622.1:p.Asp218_Ile219del
XM_006718560.2:c.652_657del	XP_006718623.1:p.Asp218_Ile219del
XM_006718561.2:c.652_657del	XP_006718624.1:p.Asp218_Ile219del
XM_011545044.1:c.652_657del	XP_011543346.1:p.Asp218_Ile219del
XM_011545045.1:c.652_657del	XP_011543347.1:p.Asp218_Ile219del
XM_011545046.1:c.619_624del	XP_011543348.1:p.Asp207_Ile208del
XM_011545047.1:c.652_657del	XP_011543349.1:p.Asp218_Ile219del
XM_011545048.1:c.652_657del	XP_011543350.1:p.Asp218_Ile219del
XM_011545049.1:c.652_657del	XP_011543351.1:p.Asp218_Ile219del
XM_011545050.1:c.394_399del	XP_011543352.1:p.Asp132_Ile133del
XM_011545051.1:c.652_657del	XP_011543353.1:p.Asp218_Ile219del
XM_011545052.1:c.652_657del	XP_011543354.1:p.Asp218_Ile219del
XR_949938.1:n.972_977del
XR_949941.1:n.972_977del
XR_949942.1:n.974_979del
XR_949943.1:n.974_979del
XM_011545044.2:c.652_657del	XP_011543346.1:p.Asp218_Ile219del
XM_011545046.2:c.742_747del	XP_011543348.2:p.Asp248_Ile249del
XM_011545050.2:c.394_399del	XP_011543352.1:p.Asp132_Ile133del
XM_017017778.1:c.742_747del	XP_016873267.1:p.Asp248_Ile249del
XM_017017779.1:c.742_747del	XP_016873268.1:p.Asp248_Ile249del
XM_017017780.1:c.742_747del	XP_016873269.1:p.Asp248_Ile249del
XM_017017781.1:c.742_747del	XP_016873270.1:p.Asp248_Ile249del
XM_017017782.1:c.742_747del	XP_016873271.1:p.Asp248_Ile249del
XM_017017783.1:c.742_747del	XP_016873272.1:p.Asp248_Ile249del
XM_017017784.1:c.742_747del	XP_016873273.1:p.Asp248_Ile249del
XM_017017785.1:c.742_747del	XP_016873274.1:p.Asp248_Ile249del
XM_017017786.1:c.742_747del	XP_016873275.1:p.Asp248_Ile249del
XM_017017787.1:c.742_747del	XP_016873276.1:p.Asp248_Ile249del
XM_017017788.1:c.742_747del	XP_016873277.1:p.Asp248_Ile249del
XR_001747885.1:n.757_762del
XR_001747886.1:n.757_762del
XR_001747887.1:n.757_762del
XR_001747888.1:n.757_762del
XR_001747889.1:n.757_762del
NM_000260.4:c.652_657del MANE Select	NP_000251.3:p.Asp218_Ile219del
NM_001127180.2:c.652_657del	NP_001120652.1:p.Asp218_Ile219del
NM_001369365.1:c.619_624del	NP_001356294.1:p.Asp207_Ile208del