Canonical Allele Identifier: CA2636448366
Gene: MYO15A HGNC NCBI

Linked Data

gnomAD v4: 17-18145997-T-TCAGGTGTGGCACAAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146011_18146012insACAGGTGTGGCACAA , CM000679.2:g.18146011_18146012insACAGGTGTGGCACAA GRCh38
NC_000017.10:g.18049325_18049326insACAGGTGTGGCACAA , CM000679.1:g.18049325_18049326insACAGGTGTGGCACAA GRCh37
NC_000017.9:g.17990050_17990051insACAGGTGTGGCACAA NCBI36
NG_011634.1:g.42306_42307insACAGGTGTGGCACAA
NG_011634.2:g.42306_42307insACAGGTGTGGCACAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6413_6414insACAGGTGTGGCACAA MANE Select ENSP00000495481.1:p.His2137_Asn2138insLysGlnValTrpHis
ENST00000205890.9:c.6413_6414insACAGGTGTGGCACAA ENSP00000205890.5:p.His2137_Asn2138insLysGlnValTrpHis
ENST00000615845.4:c.6413_6414insACAGGTGTGGCACAA ENSP00000481642.1:p.His2137_Asn2138insLysGlnValTrpHis
NM_016239.3:c.6413_6414insACAGGTGTGGCACAA NP_057323.3:p.His2137_Asn2138insLysGlnValTrpHis
XM_011523917.1:c.6353_6354insACAGGTGTGGCACAA XP_011522219.1:p.His2117_Asn2118insLysGlnValTrpHis
XM_011523918.1:c.6342+11_6342+12insACAGGTGTGGCACAA
XM_011523921.1:c.6407_6408insACAGGTGTGGCACAA XP_011522223.1:p.His2135_Asn2136insLysGlnValTrpHis
XR_934037.1:n.7012_7013insACAGGTGTGGCACAA
XR_934038.1:n.7012_7013insACAGGTGTGGCACAA
XM_011523918.2:c.6342+11_6342+12insACAGGTGTGGCACAA
XM_017024714.2:c.6353_6354insACAGGTGTGGCACAA XP_016880203.1:p.His2117_Asn2118insLysGlnValTrpHis
XM_017024715.2:c.6416_6417insACAGGTGTGGCACAA XP_016880204.1:p.His2138_Asn2139insLysGlnValTrpHis
XM_024450781.1:c.6213+1419_6213+1420insACAGGTGTGGCACAA XP_024306549.1:n.6213+1419_6213+1420insACAGGTGTGGCACAA
NM_016239.4:c.6413_6414insACAGGTGTGGCACAA MANE Select NP_057323.3:p.His2137_Asn2138insLysGlnValTrpHis
Search 100 bp 5'
Search 100 bp 3'