Canonical Allele Identifier: CA2636448611
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 3075904
ClinVar RCV Id: RCV004018222
gnomAD v4: 17-18146075-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146077del , CM000679.2:g.18146077del GRCh38
NC_000017.10:g.18049391del , CM000679.1:g.18049391del GRCh37
NC_000017.9:g.17990116del NCBI36
NG_011634.1:g.42372del
NG_011634.2:g.42372del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6479del MANE Select ENSP00000495481.1:p.Pro2160LeufsTer?
ENST00000205890.9:c.6479del ENSP00000205890.5:p.Pro2160LeufsTer?
ENST00000578999.1:n.64del
ENST00000615845.4:c.6479del ENSP00000481642.1:p.Pro2160LeufsTer?
NM_016239.3:c.6479del NP_057323.3:p.Pro2160LeufsTer?
XM_011523917.1:c.6419del XP_011522219.1:p.Pro2140LeufsTer?
XM_011523918.1:c.6342+77del XP_011522220.1:n.6342+77del
XM_011523921.1:c.6473del XP_011522223.1:p.Pro2158LeufsTer?
XR_934037.1:n.7078del
XR_934038.1:n.7078del
XM_011523918.2:c.6342+77del XP_011522220.1:n.6342+77del
XM_017024714.2:c.6419del XP_016880203.1:p.Pro2140LeufsTer?
XM_017024715.2:c.6482del XP_016880204.1:p.Pro2161LeufsTer?
XM_024450781.1:c.6213+1485del XP_024306549.1:n.6213+1485del
NM_016239.4:c.6479del MANE Select NP_057323.3:p.Pro2160LeufsTer?
Search 100 bp 5'
Search 100 bp 3'