Canonical Allele Identifier: CA2576190947
Gene: MYO15A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18159379_18159380del , CM000679.2:g.18159379_18159380del GRCh38
NC_000017.10:g.18062693_18062694del , CM000679.1:g.18062693_18062694del GRCh37
NC_000017.9:g.18003418_18003419del NCBI36
NG_011634.1:g.55674_55675del
NG_011634.2:g.55674_55675del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642418.1:n.1567+32_1567+33del
ENST00000643693.1:n.1031+32_1031+33del
ENST00000644795.1:c.1021+32_1021+33del ENSP00000495720.1:n.1021+32_1021+33del
ENST00000646782.1:n.1963+32_1963+33del
ENST00000647165.2:c.9229+32_9229+33del MANE Select ENSP00000495481.1:n.9229+32_9229+33del
ENST00000651214.1:n.1734+32_1734+33del
ENST00000205890.9:c.9229+32_9229+33del ENSP00000205890.5:n.9229+32_9229+33del
ENST00000418233.7:c.1021+32_1021+33del ENSP00000408800.3:n.1021+32_1021+33del
ENST00000433411.7:n.198_199del
ENST00000445289.6:n.316+1479_316+1480del
ENST00000556535.5:c.91+32_91+33del ENSP00000451782.1:n.91+32_91+33del
ENST00000557190.5:n.131+32_131+33del
ENST00000557655.5:c.91+32_91+33del ENSP00000451925.1:n.91+32_91+33del
ENST00000578472.5:c.91+32_91+33del ENSP00000467989.1:n.91+32_91+33del
ENST00000615845.4:c.9229+32_9229+33del ENSP00000481642.1:n.9229+32_9229+33del
NM_016239.3:c.9229+32_9229+33del NP_057323.3:n.9229+32_9229+33del
XM_011523921.1:c.9223+32_9223+33del XP_011522223.1:n.9223+32_9223+33del
XM_017024714.2:c.9169+32_9169+33del XP_016880203.1:n.9169+32_9169+33del
XM_017024715.2:c.9232+32_9232+33del XP_016880204.1:n.9232+32_9232+33del
NM_016239.4:c.9229+32_9229+33del MANE Select NP_057323.3:n.9229+32_9229+33del