Canonical Allele Identifier: CA625315092
Gene: MYO15A HGNC NCBI

Linked Data

dbSNP Id: rs1179782356
gnomAD v2: 17-18049031-AT-A
gnomAD v3: 17-18145717-AT-A
gnomAD v4: 17-18145717-AT-A
MyVariant Identifiers: chr17:g.18049032del (hg19) chr17:g.18145718del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145718del , CM000679.2:g.18145718del GRCh38
NC_000017.10:g.18049032del , CM000679.1:g.18049032del GRCh37
NC_000017.9:g.17989757del NCBI36
NG_011634.1:g.42013del
NG_011634.2:g.42013del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6274-154del MANE Select ENSP00000495481.1:n.6274-154del
ENST00000205890.9:c.6274-154del ENSP00000205890.5:n.6274-154del
ENST00000615845.4:c.6274-154del ENSP00000481642.1:n.6274-154del
NM_016239.3:c.6274-154del NP_057323.3:n.6274-154del
XM_011523917.1:c.6214-154del XP_011522219.1:n.6214-154del
XM_011523918.1:c.6214-154del XP_011522220.1:n.6214-154del
XM_011523921.1:c.6268-154del XP_011522223.1:n.6268-154del
XR_934037.1:n.6873-154del
XR_934038.1:n.6873-154del
XM_011523918.2:c.6214-154del XP_011522220.1:n.6214-154del
XM_017024714.2:c.6214-154del XP_016880203.1:n.6214-154del
XM_017024715.2:c.6277-154del XP_016880204.1:n.6277-154del
XM_024450781.1:c.6213+1126del XP_024306549.1:n.6213+1126del
NM_016239.4:c.6274-154del MANE Select NP_057323.3:n.6274-154del
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