Canonical Allele Identifier: CA8424594
Gene: MYO15A HGNC NCBI

Linked Data

dbSNP Id: rs748098244
ExAC: 17:18049393 TC / T
gnomAD v2: 17-18049393-TC-T
gnomAD v4: 17-18146079-TC-T
MyVariant Identifiers: chr17:g.18049394del (hg19) chr17:g.18146080del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146083del , CM000679.2:g.18146083del GRCh38
NC_000017.10:g.18049397del , CM000679.1:g.18049397del GRCh37
NC_000017.9:g.17990122del NCBI36
NG_011634.1:g.42378del
NG_011634.2:g.42378del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6485del MANE Select ENSP00000495481.1:p.Pro2162ArgfsTer?
ENST00000205890.9:c.6485del ENSP00000205890.5:p.Pro2162ArgfsTer?
ENST00000578999.1:n.70del
ENST00000615845.4:c.6485del ENSP00000481642.1:p.Pro2162ArgfsTer?
NM_016239.3:c.6485del NP_057323.3:p.Pro2162ArgfsTer?
XM_011523917.1:c.6425del XP_011522219.1:p.Pro2142ArgfsTer?
XM_011523918.1:c.6342+83del XP_011522220.1:n.6342+83del
XM_011523921.1:c.6479del XP_011522223.1:p.Pro2160ArgfsTer?
XR_934037.1:n.7084del
XR_934038.1:n.7084del
XM_011523918.2:c.6342+83del XP_011522220.1:n.6342+83del
XM_017024714.2:c.6425del XP_016880203.1:p.Pro2142ArgfsTer?
XM_017024715.2:c.6488del XP_016880204.1:p.Pro2163ArgfsTer?
XM_024450781.1:c.6213+1491del XP_024306549.1:n.6213+1491del
NM_016239.4:c.6485del MANE Select NP_057323.3:p.Pro2162ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'