Linked Data
ClinVar Variation Id:
94393
ClinVar RCV Id:
RCV000080376
dbSNP Id:
rs398123815
MyVariant Identifiers:
chr13:g.20763615_20763644dup (hg19)
chr13:g.20763615_20763644dup30 (hg19)
chr13:g.20763614_20763615insGGATCATAATGCGAAAAATGAAGAGGACGG (hg19)
chr13:g.20189476_20189505dup30 (hg38)
chr13:g.20189475_20189476insGGATCATAATGCGAAAAATGAAGAGGACGG (hg38)
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189476_20189505dup , CM000675.2:g.20189476_20189505dup | GRCh38 |
| NC_000013.10:g.20763615_20763644dup , CM000675.1:g.20763615_20763644dup | GRCh37 |
| NC_000013.9:g.19661615_19661644dup | NCBI36 |
| NG_008358.1:g.8471_8500dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.77_106dup | ENSP00000372295.1:p.Ile35_Leu36insProValLeuPheIlePheArgIleMet... | |
| ENST00000382848.5:c.77_106dup MANE Select | ENSP00000372299.4:p.Ile35_Leu36insProValLeuPheIlePheArgIleMet... | |
| ENST00000382844.1:c.77_106dup | ENSP00000372295.1:p.Ile35_Leu36insProValLeuPheIlePheArgIleMet... | |
| ENST00000382848.4:c.77_106dup | ENSP00000372299.4:p.Ile35_Leu36insProValLeuPheIlePheArgIleMet... | |
| NM_004004.5:c.77_106dup | NP_003995.2:p.Ile35_Leu36insProValLeuPheIlePheArgIleMetIle | |
| XM_011535049.1:c.77_106dup | XP_011533351.1:p.Ile35_Leu36insProValLeuPheIlePheArgIleMetIle... | |
| XM_011535049.2:c.77_106dup | XP_011533351.1:p.Ile35_Leu36insProValLeuPheIlePheArgIleMetIle... | |
| NM_004004.6:c.77_106dup MANE Select | NP_003995.2:p.Ile35_Leu36insProValLeuPheIlePheArgIleMetIle |