Canonical Allele Identifier: CA8423030
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 500061
ClinVar RCV Id: RCV000597925 RCV000779205 RCV001195292 RCV001375258
dbSNP Id: rs769260536
ExAC: 17:18023247 TC / T
gnomAD v2: 17-18023247-TC-T
gnomAD v3: 17-18119933-TC-T
gnomAD v4: 17-18119933-TC-T
MyVariant Identifiers: chr17:g.18023251del (hg19) chr17:g.18023248del (hg19) chr17:g.18119937del (hg38) chr17:g.18119935del (hg38) chr17:g.18119934del (hg38)
ERepo: CA8423030/MONDO:0019497/005 CA8423030/MONDO:0019497/023
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18119937del , CM000679.2:g.18119937del GRCh38
NC_000017.10:g.18023251del , CM000679.1:g.18023251del GRCh37
NC_000017.9:g.17963976del NCBI36
NG_011634.1:g.16232del
NG_011634.2:g.16232del

Transcript Alleles

HGVS Amino-acid change
ENST00000647165.2:c.1137del MANE Select ENSP00000495481.1:p.Tyr380MetfsTer?
ENST00000205890.9:c.1137del ENSP00000205890.5:p.Tyr380MetfsTer?
ENST00000583079.1:n.770del
ENST00000615845.4:c.1137del ENSP00000481642.1:p.Tyr380MetfsTer?
NM_016239.3:c.1137del NP_057323.3:p.Tyr380MetfsTer?
XM_011523917.1:c.1137del XP_011522219.1:p.Tyr380MetfsTer?
XM_011523918.1:c.1137del XP_011522220.1:p.Tyr380MetfsTer?
XM_011523919.1:c.1137del XP_011522221.1:p.Tyr380MetfsTer?
XM_011523920.1:c.1137del XP_011522222.1:p.Tyr380MetfsTer?
XM_011523921.1:c.1137del XP_011522223.1:p.Tyr380MetfsTer?
XR_934037.1:n.1796del
XR_934038.1:n.1796del
XR_934039.1:n.1796del
XM_011523918.2:c.1137del XP_011522220.1:p.Tyr380MetfsTer?
XM_017024714.2:c.1137del XP_016880203.1:p.Tyr380MetfsTer?
XM_017024715.2:c.1137del XP_016880204.1:p.Tyr380MetfsTer?
XM_024450780.1:c.1137del XP_024306548.1:p.Tyr380MetfsTer?
XM_024450781.1:c.1137del XP_024306549.1:p.Tyr380MetfsTer?
XM_024450782.1:c.1137del XP_024306550.1:p.Tyr380MetfsTer?
XR_934039.2:n.1835del
NM_016239.4:c.1137del MANE Select NP_057323.3:p.Tyr380MetfsTer?
Search 100 bp 5'
Search 100 bp 3'