Canonical Allele Identifier: CA16044422
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 375676
ClinVar RCV Id: RCV000417129
dbSNP Id: rs1057519604

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18148940del , CM000679.2:g.18148940del GRCh38
NC_000017.10:g.18052254del , CM000679.1:g.18052254del GRCh37
NC_000017.9:g.17992979del NCBI36
NG_011634.1:g.45235del
NG_011634.2:g.45235del

Transcript Alleles

HGVS Amino-acid change
ENST00000647165.2:c.6944del MANE Select ENSP00000495481.1:p.Gly2315GlufsTer?
ENST00000205890.9:c.6944del ENSP00000205890.5:p.Gly2315GlufsTer?
ENST00000578999.1:n.456del
ENST00000615845.4:c.6944del ENSP00000481642.1:p.Gly2315GlufsTer?
NM_016239.3:c.6944del NP_057323.3:p.Gly2315GlufsTer?
XM_011523917.1:c.6632-276del XP_011522219.1:n.6632-276del
XM_011523921.1:c.6938del XP_011522223.1:p.Gly2313GlufsTer?
XR_934037.1:n.7291-276del
XR_934038.1:n.7291-276del
XR_934293.1:n.435-1331del
XR_934295.1:n.254-1331del
XM_017024714.2:c.6884del XP_016880203.1:p.Gly2295GlufsTer?
XM_017024715.2:c.6947del XP_016880204.1:p.Gly2316GlufsTer?
XR_934293.2:n.378-1331del
NM_016239.4:c.6944del MANE Select NP_057323.3:p.Gly2315GlufsTer?