Canonical Allele Identifier: CA658798728
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 520965
ClinVar RCV Id: RCV000622897
dbSNP Id: rs1555545225
MyVariant Identifiers: chr17:g.18049352dup (hg19) chr17:g.18146038dup (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146038dup , CM000679.2:g.18146038dup GRCh38
NC_000017.10:g.18049352dup , CM000679.1:g.18049352dup GRCh37
NC_000017.9:g.17990077dup NCBI36
NG_011634.1:g.42333dup
NG_011634.2:g.42333dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6440dup MANE Select ENSP00000495481.1:p.Trp2148LeufsTer27
ENST00000205890.9:c.6440dup ENSP00000205890.5:p.Trp2148LeufsTer27
ENST00000578999.1:n.25dup
ENST00000615845.4:c.6440dup ENSP00000481642.1:p.Trp2148LeufsTer27
NM_016239.3:c.6440dup NP_057323.3:p.Trp2148LeufsTer27
XM_011523917.1:c.6380dup XP_011522219.1:p.Trp2128LeufsTer27
XM_011523918.1:c.6342+38dup XP_011522220.1:n.6342+38dup
XM_011523921.1:c.6434dup XP_011522223.1:p.Trp2146LeufsTer27
XR_934037.1:n.7039dup
XR_934038.1:n.7039dup
XM_011523918.2:c.6342+38dup XP_011522220.1:n.6342+38dup
XM_017024714.2:c.6380dup XP_016880203.1:p.Trp2128LeufsTer27
XM_017024715.2:c.6443dup XP_016880204.1:p.Trp2149LeufsTer27
XM_024450781.1:c.6213+1446dup XP_024306549.1:n.6213+1446dup
NM_016239.4:c.6440dup MANE Select NP_057323.3:p.Trp2148LeufsTer27
Search 100 bp 5'
Search 100 bp 3'