Canonical Allele Identifier: CA2580092659
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 2134464
ClinVar RCV Id: RCV003065889

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145951dup , CM000679.2:g.18145951dup GRCh38
NC_000017.10:g.18049265dup , CM000679.1:g.18049265dup GRCh37
NC_000017.9:g.17989990dup NCBI36
NG_011634.1:g.42246dup
NG_011634.2:g.42246dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6353dup MANE Select ENSP00000495481.1:p.Ala2119GlyfsTer4
ENST00000205890.9:c.6353dup ENSP00000205890.5:p.Ala2119GlyfsTer4
ENST00000615845.4:c.6353dup ENSP00000481642.1:p.Ala2119GlyfsTer4
NM_016239.3:c.6353dup NP_057323.3:p.Ala2119GlyfsTer4
XM_011523917.1:c.6293dup XP_011522219.1:p.Ala2099GlyfsTer4
XM_011523918.1:c.6293dup XP_011522220.1:p.Ala2099GlyfsTer4
XM_011523921.1:c.6347dup XP_011522223.1:p.Ala2117GlyfsTer4
XR_934037.1:n.6952dup
XR_934038.1:n.6952dup
XM_011523918.2:c.6293dup XP_011522220.1:p.Ala2099GlyfsTer4
XM_017024714.2:c.6293dup XP_016880203.1:p.Ala2099GlyfsTer4
XM_017024715.2:c.6356dup XP_016880204.1:p.Ala2120GlyfsTer4
XM_024450781.1:c.6213+1359dup XP_024306549.1:n.6213+1359dup
NM_016239.4:c.6353dup MANE Select NP_057323.3:p.Ala2119GlyfsTer4