Canonical Allele Identifier: CA913191112
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 623347
ClinVar RCV Id: RCV000761491
dbSNP Id: rs1567620939
gnomAD v4: 17-18119970-G-GGCCATCT
ERepo: CA913191112/MONDO:0019497/005
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18119971_18119977dup , CM000679.2:g.18119971_18119977dup GRCh38
NC_000017.10:g.18023285_18023291dup , CM000679.1:g.18023285_18023291dup GRCh37
NC_000017.9:g.17964010_17964016dup NCBI36
NG_011634.1:g.16266_16272dup
NG_011634.2:g.16266_16272dup

Transcript Alleles

HGVS Amino-acid change
ENST00000647165.2:c.1171_1177dup MANE Select ENSP00000495481.1:p.Tyr393CysfsTer?
ENST00000205890.9:c.1171_1177dup ENSP00000205890.5:p.Tyr393CysfsTer?
ENST00000583079.1:n.804_810dup
ENST00000615845.4:c.1171_1177dup ENSP00000481642.1:p.Tyr393CysfsTer?
NM_016239.3:c.1171_1177dup NP_057323.3:p.Tyr393CysfsTer?
XM_011523917.1:c.1171_1177dup XP_011522219.1:p.Tyr393CysfsTer?
XM_011523918.1:c.1171_1177dup XP_011522220.1:p.Tyr393CysfsTer?
XM_011523919.1:c.1171_1177dup XP_011522221.1:p.Tyr393CysfsTer?
XM_011523920.1:c.1171_1177dup XP_011522222.1:p.Tyr393CysfsTer?
XM_011523921.1:c.1171_1177dup XP_011522223.1:p.Tyr393CysfsTer?
XR_934037.1:n.1830_1836dup
XR_934038.1:n.1830_1836dup
XR_934039.1:n.1830_1836dup
XM_011523918.2:c.1171_1177dup XP_011522220.1:p.Tyr393CysfsTer?
XM_017024714.2:c.1171_1177dup XP_016880203.1:p.Tyr393CysfsTer?
XM_017024715.2:c.1171_1177dup XP_016880204.1:p.Tyr393CysfsTer?
XM_024450780.1:c.1171_1177dup XP_024306548.1:p.Tyr393CysfsTer?
XM_024450781.1:c.1171_1177dup XP_024306549.1:p.Tyr393CysfsTer?
XM_024450782.1:c.1171_1177dup XP_024306550.1:p.Tyr393CysfsTer?
XR_934039.2:n.1869_1875dup
NM_016239.4:c.1171_1177dup MANE Select NP_057323.3:p.Tyr393CysfsTer?
Search 100 bp 5'
Search 100 bp 3'