Canonical Allele Identifier: CA273205
Gene: MYO15A HGNC NCBI
gnomAD v2:
17:18053754 GC / G
gnomAD v3:
17:18150440 GC / G
gnomAD v4:
chr17-18150440-GC-G
Joint Max Group AF 0.00050241 (AMR)
Genomes Max Group AF 0.00108104 (AMR)
Exomes Max Group AF 0.00022387 (AMR)
ClinVar RCV:
RCV000151407
RCV000255552
ClinVar Variation:
164548
dbSNP:
727503315
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18150442del , CM000679.2:g.18150442del GRCh38
NC_000017.10:g.18053756del , CM000679.1:g.18053756del GRCh37
NC_000017.9:g.17994481del NCBI36
NG_011634.1:g.46737del
NG_011634.2:g.46737del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.7226del MANE Select ENSP00000495481.1:p.Pro2409GlnfsTer8
ENST00000205890.9:c.7226del ENSP00000205890.5:p.Pro2409GlnfsTer8
ENST00000615845.4:c.7226del ENSP00000481642.1:p.Pro2409GlnfsTer8
NM_016239.3:c.7226del NP_057323.3:p.Pro2409GlnfsTer8
XM_011523917.1:c.6901del XP_011522219.1:p.Gln2301AsnfsTer19
XM_011523921.1:c.7220del XP_011522223.1:p.Pro2407GlnfsTer8
XR_934037.1:n.7560del
XR_934038.1:n.7512del
XR_934293.1:n.434+1162del
XR_934294.1:n.435-668del
XR_934295.1:n.253+1162del
XM_017024714.2:c.7166del XP_016880203.1:p.Pro2389GlnfsTer8
XM_017024715.2:c.7229del XP_016880204.1:p.Pro2410GlnfsTer8
XR_934293.2:n.377+1162del
XR_934294.2:n.378-668del
NM_016239.4:c.7226del MANE Select NP_057323.3:p.Pro2409GlnfsTer8
Search 100 bp 5'
Search 100 bp 3'