Canonical Allele Identifier: CA8424598
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 3075969
ClinVar RCV Id: RCV004018287
dbSNP Id: rs769792093
ExAC: 17:18049401 C / CT
gnomAD v2: 17-18049401-C-CT
gnomAD v3: 17-18146087-C-CT
gnomAD v4: 17-18146087-C-CT
MyVariant Identifiers: chr17:g.18049401_18049402insT (hg19) chr17:g.18146087_18146088insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146089dup , CM000679.2:g.18146089dup GRCh38
NC_000017.10:g.18049403dup , CM000679.1:g.18049403dup GRCh37
NC_000017.9:g.17990128dup NCBI36
NG_011634.1:g.42384dup
NG_011634.2:g.42384dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6491dup MANE Select ENSP00000495481.1:p.Asn2165GlnfsTer10
ENST00000205890.9:c.6491dup ENSP00000205890.5:p.Asn2165GlnfsTer10
ENST00000578999.1:n.76dup
ENST00000615845.4:c.6491dup ENSP00000481642.1:p.Asn2165GlnfsTer10
NM_016239.3:c.6491dup NP_057323.3:p.Asn2165GlnfsTer10
XM_011523917.1:c.6431dup XP_011522219.1:p.Asn2145GlnfsTer10
XM_011523918.1:c.6342+89dup XP_011522220.1:n.6342+89dup
XM_011523921.1:c.6485dup XP_011522223.1:p.Asn2163GlnfsTer10
XR_934037.1:n.7090dup
XR_934038.1:n.7090dup
XM_011523918.2:c.6342+89dup XP_011522220.1:n.6342+89dup
XM_017024714.2:c.6431dup XP_016880203.1:p.Asn2145GlnfsTer10
XM_017024715.2:c.6494dup XP_016880204.1:p.Asn2166GlnfsTer10
XM_024450781.1:c.6213+1497dup XP_024306549.1:n.6213+1497dup
NM_016239.4:c.6491dup MANE Select NP_057323.3:p.Asn2165GlnfsTer10
Search 100 bp 5'
Search 100 bp 3'