Canonical Allele Identifier: CA2250850364
Gene: MYO15A HGNC NCBI

Linked Data

dbSNP Id: rs2046474559
gnomAD v4: 17-18146054-CG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146055del , CM000679.2:g.18146055del GRCh38
NC_000017.10:g.18049369del , CM000679.1:g.18049369del GRCh37
NC_000017.9:g.17990094del NCBI36
NG_011634.1:g.42350del
NG_011634.2:g.42350del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6457del MANE Select ENSP00000495481.1:p.Ala2153ProfsTer?
ENST00000205890.9:c.6457del ENSP00000205890.5:p.Ala2153ProfsTer?
ENST00000578999.1:n.42del
ENST00000615845.4:c.6457del ENSP00000481642.1:p.Ala2153ProfsTer?
NM_016239.3:c.6457del NP_057323.3:p.Ala2153ProfsTer?
XM_011523917.1:c.6397del XP_011522219.1:p.Ala2133ProfsTer?
XM_011523918.1:c.6342+55del XP_011522220.1:n.6342+55del
XM_011523921.1:c.6451del XP_011522223.1:p.Ala2151ProfsTer?
XR_934037.1:n.7056del
XR_934038.1:n.7056del
XM_011523918.2:c.6342+55del XP_011522220.1:n.6342+55del
XM_017024714.2:c.6397del XP_016880203.1:p.Ala2133ProfsTer?
XM_017024715.2:c.6460del XP_016880204.1:p.Ala2154ProfsTer?
XM_024450781.1:c.6213+1463del XP_024306549.1:n.6213+1463del
NM_016239.4:c.6457del MANE Select NP_057323.3:p.Ala2153ProfsTer?
Search 100 bp 5'
Search 100 bp 3'