Canonical Allele Identifier: CA7045410
Gene: MYO16 HGNC NCBI
MYO16-AS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2066030
ClinVar RCV Id: RCV002948867
dbSNP Id: rs756122473
ExAC: 13:109753221 T / TTACAAGGCTGGCAGGTTGGTGACC
gnomAD v2: 13-109753221-T-TTACAAGGCTGGCAGGTTGGTGACC
gnomAD v3: 13-109100873-T-TTACAAGGCTGGCAGGTTGGTGACC
gnomAD v4: 13-109100873-T-TTACAAGGCTGGCAGGTTGGTGACC
MyVariant Identifiers: chr13:g.109753221_109753222insTACAAGGCTGGCAGGTTGGTGACC (hg19) chr13:g.109100873_109100874insTACAAGGCTGGCAGGTTGGTGACC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.109100880_109100903dup , CM000675.2:g.109100880_109100903dup GRCh38
NC_000013.10:g.109753228_109753251dup , CM000675.1:g.109753228_109753251dup GRCh37
NC_000013.9:g.108551229_108551252dup NCBI36
NG_053147.1:g.610152_610175dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356711.7:c.3365_3372+16dup (MYO16)
ENST00000457511.7:c.3431_3438+16dup (MYO16)
ENST00000356711.6:c.3365_3372+16dup (MYO16)
ENST00000357550.3:c.3365_3372+16dup (MYO16)
ENST00000457511.6:c.3431_3438+16dup (MYO16)
NM_001198950.1:c.3431_3438+16dup (MYO16)
NM_015011.1:c.3365_3372+16dup (MYO16)
XM_011521062.1:c.3365_3372+16dup (MYO16)
NM_001198950.2:c.3431_3438+16dup (MYO16)
NM_015011.2:c.3365_3372+16dup (MYO16)
NM_001198950.3:c.3431_3438+16dup (MYO16)
NM_015011.3:c.3365_3372+16dup (MYO16)
NR_046538.1:n.577-88_577-65dup (MYO16-AS2)
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