Canonical Allele Identifier: CA2608579071
Gene: MYO3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.26212408_26212409del , CM000672.2:g.26212408_26212409del GRCh38
NC_000010.10:g.26501337_26501338del , CM000672.1:g.26501337_26501338del GRCh37
NC_000010.9:g.26541343_26541344del NCBI36
NG_011635.1:g.283336_283337del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642920.2:c.*445_*446del MANE Select ENSP00000495965.1:n.*445_*446del
ENST00000265944.9:c.*445_*446del ENSP00000265944.4:n.*445_*446del
NM_017433.4:c.*445_*446del NP_059129.3:n.*445_*446del
XM_011519498.1:c.*445_*446del XP_011517800.1:n.*445_*446del
XM_011519499.1:c.*445_*446del XP_011517801.1:n.*445_*446del
XM_011519500.1:c.*445_*446del XP_011517802.1:n.*445_*446del
XM_011519501.1:c.*445_*446del XP_011517803.1:n.*445_*446del
XM_011519504.1:c.*347_*348del XP_011517806.1:n.*347_*348del
XM_011519505.1:c.*445_*446del XP_011517807.1:n.*445_*446del
XM_011519507.1:c.*445_*446del XP_011517809.1:n.*445_*446del
XM_011519512.1:c.*445_*446del XP_011517814.1:n.*445_*446del
XM_011519513.1:c.*445_*446del XP_011517815.1:n.*445_*446del
XR_930493.1:n.5393_5394del
XM_011519498.2:c.*445_*446del XP_011517800.1:n.*445_*446del
XM_011519500.2:c.*445_*446del XP_011517802.1:n.*445_*446del
XM_011519513.2:c.*445_*446del XP_011517815.1:n.*445_*446del
XR_001747111.1:n.4353_4354del
NM_017433.5:c.*445_*446del MANE Select NP_059129.3:n.*445_*446del