Canonical Allele Identifier: CA2573147689
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 1605940
ClinVar RCV Id: RCV002137507
dbSNP Id: rs2135405778
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77172736_77172737delinsTT , CM000673.2:g.77172736_77172737delinsTT GRCh38
NC_000011.9:g.76883782_76883783delinsTT , CM000673.1:g.76883782_76883783delinsTT GRCh37
NC_000011.8:g.76561430_76561431delinsTT NCBI36
NG_009086.1:g.49473_49474delinsTT
NG_009086.2:g.49491_49492delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.1798-12_1798-11delinsTT MANE Select ENSP00000386331.3:n.1798-12_1798-11delinsTT
ENST00000669443.1:c.162-12_162-11delinsTT
ENST00000409619.6:c.1765-12_1765-11delinsTT ENSP00000386635.2:n.1765-12_1765-11delinsTT
ENST00000409709.7:c.1798-12_1798-11delinsTT ENSP00000386331.3:n.1798-12_1798-11delinsTT
ENST00000409893.5:c.1798-12_1798-11delinsTT ENSP00000386689.1:n.1798-12_1798-11delinsTT
ENST00000458637.6:c.1798-12_1798-11delinsTT ENSP00000392185.2:n.1798-12_1798-11delinsTT
ENST00000620575.4:c.1798-12_1798-11delinsTT ENSP00000477640.1:n.1798-12_1798-11delinsTT
NM_000260.3:c.1798-12_1798-11delinsTT NP_000251.3:n.1798-12_1798-11delinsTT
NM_001127179.2:c.1798-12_1798-11delinsTT NP_001120651.2:n.1798-12_1798-11delinsTT
NM_001127180.1:c.1798-12_1798-11delinsTT NP_001120652.1:n.1798-12_1798-11delinsTT
XM_005274012.2:c.1798-12_1798-11delinsTT XP_005274069.1:n.1798-12_1798-11delinsTT
XM_006718558.2:c.1798-12_1798-11delinsTT XP_006718621.1:n.1798-12_1798-11delinsTT
XM_006718559.2:c.1798-12_1798-11delinsTT XP_006718622.1:n.1798-12_1798-11delinsTT
XM_006718560.2:c.1798-12_1798-11delinsTT XP_006718623.1:n.1798-12_1798-11delinsTT
XM_006718561.2:c.1798-12_1798-11delinsTT XP_006718624.1:n.1798-12_1798-11delinsTT
XM_011545044.1:c.1798-12_1798-11delinsTT XP_011543346.1:n.1798-12_1798-11delinsTT
XM_011545045.1:c.1798-12_1798-11delinsTT XP_011543347.1:n.1798-12_1798-11delinsTT
XM_011545046.1:c.1765-12_1765-11delinsTT XP_011543348.1:n.1765-12_1765-11delinsTT
XM_011545047.1:c.1798-12_1798-11delinsTT XP_011543349.1:n.1798-12_1798-11delinsTT
XM_011545048.1:c.1798-12_1798-11delinsTT XP_011543350.1:n.1798-12_1798-11delinsTT
XM_011545049.1:c.1567-12_1567-11delinsTT XP_011543351.1:n.1567-12_1567-11delinsTT
XM_011545050.1:c.1540-12_1540-11delinsTT XP_011543352.1:n.1540-12_1540-11delinsTT
XM_011545051.1:c.1798-12_1798-11delinsTT XP_011543353.1:n.1798-12_1798-11delinsTT
XM_011545052.1:c.1798-12_1798-11delinsTT XP_011543354.1:n.1798-12_1798-11delinsTT
XR_949938.1:n.2118-12_2118-11delinsTT
XR_949941.1:n.2118-12_2118-11delinsTT
XR_949942.1:n.2120-12_2120-11delinsTT
XR_949943.1:n.2120-12_2120-11delinsTT
XM_011545044.2:c.1798-12_1798-11delinsTT XP_011543346.1:n.1798-12_1798-11delinsTT
XM_011545046.2:c.1888-12_1888-11delinsTT XP_011543348.2:n.1888-12_1888-11delinsTT
XM_011545050.2:c.1540-12_1540-11delinsTT XP_011543352.1:n.1540-12_1540-11delinsTT
XM_017017778.1:c.1888-12_1888-11delinsTT XP_016873267.1:n.1888-12_1888-11delinsTT
XM_017017779.1:c.1888-12_1888-11delinsTT XP_016873268.1:n.1888-12_1888-11delinsTT
XM_017017780.1:c.1888-12_1888-11delinsTT XP_016873269.1:n.1888-12_1888-11delinsTT
XM_017017781.1:c.1888-12_1888-11delinsTT XP_016873270.1:n.1888-12_1888-11delinsTT
XM_017017782.1:c.1888-12_1888-11delinsTT XP_016873271.1:n.1888-12_1888-11delinsTT
XM_017017783.1:c.1888-12_1888-11delinsTT XP_016873272.1:n.1888-12_1888-11delinsTT
XM_017017784.1:c.1888-12_1888-11delinsTT XP_016873273.1:n.1888-12_1888-11delinsTT
XM_017017785.1:c.1657-12_1657-11delinsTT XP_016873274.1:n.1657-12_1657-11delinsTT
XM_017017786.1:c.1888-12_1888-11delinsTT XP_016873275.1:n.1888-12_1888-11delinsTT
XM_017017787.1:c.1888-12_1888-11delinsTT XP_016873276.1:n.1888-12_1888-11delinsTT
XM_017017788.1:c.1888-12_1888-11delinsTT XP_016873277.1:n.1888-12_1888-11delinsTT
XR_001747885.1:n.1903-12_1903-11delinsTT
XR_001747886.1:n.1903-12_1903-11delinsTT
XR_001747887.1:n.1903-12_1903-11delinsTT
XR_001747888.1:n.1903-12_1903-11delinsTT
XR_001747889.1:n.1903-12_1903-11delinsTT
NM_000260.4:c.1798-12_1798-11delinsTT MANE Select NP_000251.3:n.1798-12_1798-11delinsTT
NM_001127180.2:c.1798-12_1798-11delinsTT NP_001120652.1:n.1798-12_1798-11delinsTT
NM_001369365.1:c.1765-12_1765-11delinsTT NP_001356294.1:n.1765-12_1765-11delinsTT
Search 100 bp 5'
Search 100 bp 3'