Canonical Allele Identifier: CA2250850213
Gene: MYO15A HGNC NCBI

Linked Data

dbSNP Id: rs764109138
gnomAD v4: 17-18145722-CTA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145731_18145732del , CM000679.2:g.18145731_18145732del GRCh38
NC_000017.10:g.18049045_18049046del , CM000679.1:g.18049045_18049046del GRCh37
NC_000017.9:g.17989770_17989771del NCBI36
NG_011634.1:g.42026_42027del
NG_011634.2:g.42026_42027del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6274-141_6274-140del MANE Select ENSP00000495481.1:n.6274-141_6274-140del
ENST00000205890.9:c.6274-141_6274-140del ENSP00000205890.5:n.6274-141_6274-140del
ENST00000615845.4:c.6274-141_6274-140del ENSP00000481642.1:n.6274-141_6274-140del
NM_016239.3:c.6274-141_6274-140del NP_057323.3:n.6274-141_6274-140del
XM_011523917.1:c.6214-141_6214-140del XP_011522219.1:n.6214-141_6214-140del
XM_011523918.1:c.6214-141_6214-140del XP_011522220.1:n.6214-141_6214-140del
XM_011523921.1:c.6268-141_6268-140del XP_011522223.1:n.6268-141_6268-140del
XR_934037.1:n.6873-141_6873-140del
XR_934038.1:n.6873-141_6873-140del
XM_011523918.2:c.6214-141_6214-140del XP_011522220.1:n.6214-141_6214-140del
XM_017024714.2:c.6214-141_6214-140del XP_016880203.1:n.6214-141_6214-140del
XM_017024715.2:c.6277-141_6277-140del XP_016880204.1:n.6277-141_6277-140del
XM_024450781.1:c.6213+1139_6213+1140del XP_024306549.1:n.6213+1139_6213+1140del
NM_016239.4:c.6274-141_6274-140del MANE Select NP_057323.3:n.6274-141_6274-140del
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