Canonical Allele Identifier: CA625315091
Gene: MYO15A HGNC NCBI

Linked Data

dbSNP Id: rs1482595711
gnomAD v2: 17-18049010-CAG-C
gnomAD v3: 17-18145696-CAG-C
gnomAD v4: 17-18145696-CAG-C
MyVariant Identifiers: chr17:g.18049011_18049012del (hg19) chr17:g.18145697_18145698del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145700_18145701del , CM000679.2:g.18145700_18145701del GRCh38
NC_000017.10:g.18049014_18049015del , CM000679.1:g.18049014_18049015del GRCh37
NC_000017.9:g.17989739_17989740del NCBI36
NG_011634.1:g.41995_41996del
NG_011634.2:g.41995_41996del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6274-172_6274-171del MANE Select ENSP00000495481.1:n.6274-172_6274-171del
ENST00000205890.9:c.6274-172_6274-171del ENSP00000205890.5:n.6274-172_6274-171del
ENST00000615845.4:c.6274-172_6274-171del ENSP00000481642.1:n.6274-172_6274-171del
NM_016239.3:c.6274-172_6274-171del NP_057323.3:n.6274-172_6274-171del
XM_011523917.1:c.6214-172_6214-171del XP_011522219.1:n.6214-172_6214-171del
XM_011523918.1:c.6214-172_6214-171del XP_011522220.1:n.6214-172_6214-171del
XM_011523921.1:c.6268-172_6268-171del XP_011522223.1:n.6268-172_6268-171del
XR_934037.1:n.6873-172_6873-171del
XR_934038.1:n.6873-172_6873-171del
XM_011523918.2:c.6214-172_6214-171del XP_011522220.1:n.6214-172_6214-171del
XM_017024714.2:c.6214-172_6214-171del XP_016880203.1:n.6214-172_6214-171del
XM_017024715.2:c.6277-172_6277-171del XP_016880204.1:n.6277-172_6277-171del
XM_024450781.1:c.6213+1108_6213+1109del XP_024306549.1:n.6213+1108_6213+1109del
NM_016239.4:c.6274-172_6274-171del MANE Select NP_057323.3:n.6274-172_6274-171del
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