Canonical Allele Identifier: CA912973143
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 2201836
ClinVar RCV Id: RCV002663934
dbSNP Id: rs1957653605

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77208802_77208812del , CM000673.2:g.77208802_77208812del GRCh38
NC_000011.9:g.76919847_76919857del , CM000673.1:g.76919847_76919857del GRCh37
NC_000011.8:g.76597495_76597505del NCBI36
NG_009086.1:g.85538_85548del
NG_009086.2:g.85557_85567del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.6050_6051+9del
ENST00000670577.1:c.3851_3852+9del
ENST00000409619.6:c.5903_5904+9del
ENST00000409709.7:c.6050_6051+9del
ENST00000458169.2:c.3476_3477+9del
ENST00000458637.6:c.5936_5937+9del
ENST00000481328.7:n.3586_3587+9del
ENST00000605744.1:n.964_974del
NM_000260.3:c.6050_6051+9del
NM_001127180.1:c.5936_5937+9del
XM_005274012.2:c.5933_5934+9del
XM_006718558.2:c.6041_6042+9del
XM_006718559.2:c.5936_5937+9del
XM_006718560.2:c.5933_5934+9del
XM_006718561.2:c.5936_5937+9del
XM_011545044.1:c.6050_6051+9del
XM_011545045.1:c.6044_6045+9del
XM_011545046.1:c.6017_6018+9del
XM_011545047.1:c.5954_5955+9del
XM_011545048.1:c.5825_5826+9del
XM_011545049.1:c.5813_5814+9del
XM_011545050.1:c.5786_5787+9del
XM_011545051.1:c.6050_6051+9del
XR_949938.1:n.6370_6371+9del
XR_949941.1:n.6344_6345+9del
XM_011545044.2:c.6050_6051+9del
XM_011545046.2:c.6140_6141+9del
XM_011545050.2:c.5786_5787+9del
XM_017017778.1:c.6134_6135+9del
XM_017017779.1:c.6131_6132+9del
XM_017017780.1:c.6140_6141+9del
XM_017017781.1:c.6044_6045+9del
XM_017017782.1:c.6026_6027+9del
XM_017017783.1:c.6023_6024+9del
XM_017017784.1:c.6023_6024+9del
XM_017017785.1:c.5903_5904+9del
XM_017017786.1:c.6140_6141+9del
XM_017017788.1:c.6026_6027+9del
XR_001747885.1:n.6129_6130+9del
XR_001747886.1:n.6070_6071+9del
XR_001747887.1:n.6115_6116+9del
NM_000260.4:c.6050_6051+9del
NM_001127180.2:c.5936_5937+9del
NM_001369365.1:c.5903_5904+9del