Linked Data
ClinVar Variation Id:
421528
ClinVar RCV Id:
RCV000478877
dbSNP Id:
rs1064795192
gnomAD v4:
15-45378374-G-GGCGC
MyVariant Identifiers:
chr15:g.45670572_45670573insGCGC (hg19)
chr15:g.45378374_45378375insGCGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45378375_45378378dup , CM000677.2:g.45378375_45378378dup | GRCh38 |
| NC_000015.9:g.45670573_45670576dup , CM000677.1:g.45670573_45670576dup | GRCh37 |
| NC_000015.8:g.43457865_43457868dup | NCBI36 |
| NG_011674.1:g.5405_5408dup | |
| NG_011674.2:g.28940_28943dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396659.8:c.69+7_69+10dup MANE Select | ENSP00000379895.3:n.69+7_69+10dup | |
| ENST00000674905.1:c.69+7_69+10dup | ENSP00000502176.1:n.69+7_69+10dup | |
| ENST00000675158.1:c.69+7_69+10dup | ENSP00000501737.1:n.69+7_69+10dup | |
| ENST00000675323.1:c.69+7_69+10dup | ENSP00000502445.1:n.69+7_69+10dup | |
| ENST00000675974.1:n.160+7_160+10dup | ||
| ENST00000676090.1:c.228+7_228+10dup | ENSP00000501630.1:n.228+7_228+10dup | |
| ENST00000396659.7:c.69+7_69+10dup | ENSP00000379895.3:n.69+7_69+10dup | |
| ENST00000558118.1:c.69+7_69+10dup | ENSP00000452971.1:n.69+7_69+10dup | |
| ENST00000558163.1:c.69+7_69+10dup | ENSP00000453781.1:n.69+7_69+10dup | |
| ENST00000558336.5:c.69+7_69+10dup | ENSP00000454008.1:n.69+7_69+10dup | |
| ENST00000558362.5:n.167_170dup | ||
| ENST00000560538.1:n.339-1559_339-1556dup | ||
| ENST00000561148.5:c.-318-1559_-318-1556dup | ENSP00000453860.1:n.-318-1559_-318-1556dup | |
| NM_001482.2:c.69+7_69+10dup | NP_001473.1:n.69+7_69+10dup | |
| XM_011521450.1:c.118-1559_118-1556dup | XP_011519752.1:n.118-1559_118-1556dup | |
| XM_011521451.1:c.112-1559_112-1556dup | XP_011519753.1:n.112-1559_112-1556dup | |
| NM_001321015.1:c.-318-1559_-318-1556dup | NP_001307944.1:n.-318-1559_-318-1556dup | |
| NM_001482.3:c.69+7_69+10dup MANE Select | NP_001473.1:n.69+7_69+10dup | |
| NM_001321015.2:c.-318-1559_-318-1556dup | NP_001307944.1:n.-318-1559_-318-1556dup |