Canonical Allele Identifier: CA2573147717
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 1459383
ClinVar RCV Id: RCV001958965
dbSNP Id: rs2135235196

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77156675_77156842delinsAG , CM000673.2:g.77156675_77156842delinsAG GRCh38
NC_000011.9:g.76867721_76867888delinsAG , CM000673.1:g.76867721_76867888delinsAG GRCh37
NC_000011.8:g.76545369_76545536delinsAG NCBI36
NG_009086.1:g.33412_33579delinsAG
NG_009086.2:g.33430_33597delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.486_593-20delinsAG
ENST00000409619.6:c.453_560-20delinsAG
ENST00000409709.7:c.486_593-20delinsAG
ENST00000409893.5:c.486_593-20delinsAG
ENST00000458637.6:c.486_593-20delinsAG
ENST00000620575.4:c.486_593-20delinsAG
NM_000260.3:c.486_593-20delinsAG
NM_001127179.2:c.486_593-20delinsAG
NM_001127180.1:c.486_593-20delinsAG
XM_005274012.2:c.486_593-20delinsAG
XM_006718558.2:c.486_593-20delinsAG
XM_006718559.2:c.486_593-20delinsAG
XM_006718560.2:c.486_593-20delinsAG
XM_006718561.2:c.486_593-20delinsAG
XM_011545044.1:c.486_593-20delinsAG
XM_011545045.1:c.486_593-20delinsAG
XM_011545046.1:c.453_560-20delinsAG
XM_011545047.1:c.486_593-20delinsAG
XM_011545048.1:c.486_593-20delinsAG
XM_011545049.1:c.486_593-20delinsAG
XM_011545050.1:c.228_335-20delinsAG
XM_011545051.1:c.486_593-20delinsAG
XM_011545052.1:c.486_593-20delinsAG
XR_949938.1:n.806_913-20delinsAG
XR_949941.1:n.806_913-20delinsAG
XR_949942.1:n.808_915-20delinsAG
XR_949943.1:n.808_915-20delinsAG
XM_011545044.2:c.486_593-20delinsAG
XM_011545046.2:c.576_683-20delinsAG
XM_011545050.2:c.228_335-20delinsAG
XM_017017778.1:c.576_683-20delinsAG
XM_017017779.1:c.576_683-20delinsAG
XM_017017780.1:c.576_683-20delinsAG
XM_017017781.1:c.576_683-20delinsAG
XM_017017782.1:c.576_683-20delinsAG
XM_017017783.1:c.576_683-20delinsAG
XM_017017784.1:c.576_683-20delinsAG
XM_017017785.1:c.576_683-20delinsAG
XM_017017786.1:c.576_683-20delinsAG
XM_017017787.1:c.576_683-20delinsAG
XM_017017788.1:c.576_683-20delinsAG
XR_001747885.1:n.591_698-20delinsAG
XR_001747886.1:n.591_698-20delinsAG
XR_001747887.1:n.591_698-20delinsAG
XR_001747888.1:n.591_698-20delinsAG
XR_001747889.1:n.591_698-20delinsAG
NM_000260.4:c.486_593-20delinsAG
NM_001127180.2:c.486_593-20delinsAG
NM_001369365.1:c.453_560-20delinsAG