Canonical Allele Identifier: CA8424746
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 435919
ClinVar RCV Id: RCV000504331 RCV000605806 RCV000626936 RCV001653861
dbSNP Id: rs780170125
ExAC: 17:18052802 TCAGA / T
gnomAD v2: 17-18052802-TCAGA-T
gnomAD v3: 17-18149488-TCAGA-T
gnomAD v4: 17-18149488-TCAGA-T
MyVariant Identifiers: chr17:g.18052806_18052809del (hg19) chr17:g.18052803_18052806del (hg19) chr17:g.18149492_18149495del (hg38) chr17:g.18149490_18149493del (hg38) chr17:g.18149489_18149492del (hg38)
PubMed: PMID:24875298 PMID:26969326
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18149492_18149495del , CM000679.2:g.18149492_18149495del GRCh38
NC_000017.10:g.18052806_18052809del , CM000679.1:g.18052806_18052809del GRCh37
NC_000017.9:g.17993531_17993534del NCBI36
NG_011634.1:g.45787_45790del
NG_011634.2:g.45787_45790del

Transcript Alleles

HGVS Amino-acid change
ENST00000647165.2:c.7124_7127del MANE Select ENSP00000495481.1:p.Asp2375ValfsTer?
ENST00000205890.9:c.7124_7127del ENSP00000205890.5:p.Asp2375ValfsTer?
ENST00000578999.1:n.745_748del
ENST00000615845.4:c.7124_7127del ENSP00000481642.1:p.Asp2375ValfsTer?
NM_016239.3:c.7124_7127del NP_057323.3:p.Asp2375ValfsTer?
XM_011523917.1:c.6799_6802del XP_011522219.1:p.Thr2267SerfsTer17
XM_011523921.1:c.7118_7121del XP_011522223.1:p.Asp2373ValfsTer?
XR_934037.1:n.7458_7461del
XR_934038.1:n.7410_7413del
XR_934293.1:n.435-1886_435-1883del
XR_934295.1:n.254-1886_254-1883del
XM_017024714.2:c.7064_7067del XP_016880203.1:p.Asp2355ValfsTer?
XM_017024715.2:c.7127_7130del XP_016880204.1:p.Asp2376ValfsTer?
XR_934293.2:n.378-1886_378-1883del
NM_016239.4:c.7124_7127del MANE Select NP_057323.3:p.Asp2375ValfsTer?
Search 100 bp 5'
Search 100 bp 3'