Canonical Allele Identifier: CA8422832
Gene: MYO15A HGNC NCBI

Linked Data

dbSNP Id: rs750130520
ExAC: 17:18022527 CA / C
gnomAD v2: 17-18022527-CA-C
gnomAD v4: 17-18119213-CA-C
COSMIC: COSM5743838
MyVariant Identifiers: chr17:g.18022528del (hg19) chr17:g.18119214del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18119219del , CM000679.2:g.18119219del GRCh38
NC_000017.10:g.18022533del , CM000679.1:g.18022533del GRCh37
NC_000017.9:g.17963258del NCBI36
NG_011634.1:g.15514del
NG_011634.2:g.15514del

Transcript Alleles

HGVS Amino-acid change
ENST00000647165.2:c.419del MANE Select ENSP00000495481.1:p.Lys140SerfsTer?
ENST00000205890.9:c.419del ENSP00000205890.5:p.Lys140SerfsTer?
ENST00000583079.1:n.52del
ENST00000615845.4:c.419del ENSP00000481642.1:p.Lys140SerfsTer?
NM_016239.3:c.419del NP_057323.3:p.Lys140SerfsTer?
XM_011523917.1:c.419del XP_011522219.1:p.Lys140SerfsTer?
XM_011523918.1:c.419del XP_011522220.1:p.Lys140SerfsTer?
XM_011523919.1:c.419del XP_011522221.1:p.Lys140SerfsTer?
XM_011523920.1:c.419del XP_011522222.1:p.Lys140SerfsTer?
XM_011523921.1:c.419del XP_011522223.1:p.Lys140SerfsTer?
XR_934037.1:n.1078del
XR_934038.1:n.1078del
XR_934039.1:n.1078del
XM_011523918.2:c.419del XP_011522220.1:p.Lys140SerfsTer?
XM_017024714.2:c.419del XP_016880203.1:p.Lys140SerfsTer?
XM_017024715.2:c.419del XP_016880204.1:p.Lys140SerfsTer?
XM_024450780.1:c.419del XP_024306548.1:p.Lys140SerfsTer?
XM_024450781.1:c.419del XP_024306549.1:p.Lys140SerfsTer?
XM_024450782.1:c.419del XP_024306550.1:p.Lys140SerfsTer?
XR_934039.2:n.1117del
NM_016239.4:c.419del MANE Select NP_057323.3:p.Lys140SerfsTer?
Search 100 bp 5'
Search 100 bp 3'