Canonical Allele Identifier: CA2636448970
Gene: MYO15A HGNC NCBI

Linked Data

gnomAD v4: 17-18146198-CAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146200_18146201del , CM000679.2:g.18146200_18146201del GRCh38
NC_000017.10:g.18049514_18049515del , CM000679.1:g.18049514_18049515del GRCh37
NC_000017.9:g.17990239_17990240del NCBI36
NG_011634.1:g.42495_42496del
NG_011634.2:g.42495_42496del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6509+93_6509+94del MANE Select ENSP00000495481.1:n.6509+93_6509+94del
ENST00000205890.9:c.6509+93_6509+94del ENSP00000205890.5:n.6509+93_6509+94del
ENST00000578999.1:n.94+93_94+94del
ENST00000615845.4:c.6509+93_6509+94del ENSP00000481642.1:n.6509+93_6509+94del
NM_016239.3:c.6509+93_6509+94del NP_057323.3:n.6509+93_6509+94del
XM_011523917.1:c.6449+93_6449+94del XP_011522219.1:n.6449+93_6449+94del
XM_011523918.1:c.6342+200_6342+201del XP_011522220.1:n.6342+200_6342+201del
XM_011523921.1:c.6503+93_6503+94del XP_011522223.1:n.6503+93_6503+94del
XR_934037.1:n.7108+93_7108+94del
XR_934038.1:n.7108+93_7108+94del
XM_011523918.2:c.6342+200_6342+201del XP_011522220.1:n.6342+200_6342+201del
XM_017024714.2:c.6449+93_6449+94del XP_016880203.1:n.6449+93_6449+94del
XM_017024715.2:c.6512+93_6512+94del XP_016880204.1:n.6512+93_6512+94del
XM_024450781.1:c.6213+1608_6213+1609del XP_024306549.1:n.6213+1608_6213+1609del
NM_016239.4:c.6509+93_6509+94del MANE Select NP_057323.3:n.6509+93_6509+94del
Search 100 bp 5'
Search 100 bp 3'