Linked Data
ClinVar Variation Id:
203444
dbSNP Id:
rs886037748
gnomAD v2:
5-16478189-CT-C
gnomAD v4:
5-16478080-CT-C
PubMed:
PMID:24327336
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.16478086del , CM000667.2:g.16478086del | GRCh38 |
| NC_000005.9:g.16478195del , CM000667.1:g.16478195del | GRCh37 |
| NC_000005.8:g.16531195del | NCBI36 |
| NG_016644.2:g.143929del , LRG_363:g.143929del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509977.2:n.474del | ||
| ENST00000510362.6:c.301del | ENSP00000425089.2:p.Ser101ValfsTer8 | |
| ENST00000682033.1:c.127-2847del | ||
| ENST00000682142.1:c.523del | ENSP00000506804.1:p.Ser175ValfsTer8 | |
| ENST00000682229.1:c.982del | ENSP00000507342.1:p.Ser328ValfsTer8 | |
| ENST00000682564.1:c.823del | ENSP00000508099.1:p.Ser275ValfsTer8 | |
| ENST00000682628.1:c.301del | ENSP00000507536.1:p.Ser101ValfsTer8 | |
| ENST00000682982.1:n.1600del | ||
| ENST00000683045.1:n.5125del | ||
| ENST00000683130.1:c.*72del | ENSP00000507709.1:n.*72del | |
| ENST00000683169.1:n.1325del | ||
| ENST00000683414.1:c.301del | ENSP00000508335.1:p.Ser101ValfsTer8 | |
| ENST00000683527.1:c.*125del | ENSP00000507253.1:n.*125del | |
| ENST00000683539.1:c.301del | ENSP00000507466.1:p.Ser101ValfsTer8 | |
| ENST00000684456.1:c.-243del | ENSP00000508060.1:n.-243del | |
| ENST00000684521.1:c.688del | ENSP00000507521.1:p.Ser230ValfsTer8 | |
| ENST00000684695.1:n.3096del | ||
| ENST00000306320.10:c.826del MANE Select | ENSP00000304642.9:p.Ser276ValfsTer8 | |
| ENST00000306320.9:c.826del | ENSP00000304642.9:p.Ser276ValfsTer8 | |
| ENST00000399793.6:c.403del | ENSP00000382691.2:p.Ser135ValfsTer8 | |
| ENST00000509977.1:n.462del | ||
| NM_001034850.2:c.826del , LRG_363t1:c.826del | NP_001030022.1:p.Ser276ValfsTer8 | |
| NM_019000.4:c.403del | NP_061873.2:p.Ser135ValfsTer8 | |
| XM_011514053.1:c.946del | XP_011512355.1:p.Ser316ValfsTer8 | |
| XM_011514054.1:c.523del | XP_011512356.1:p.Ser175ValfsTer8 | |
| XM_011514055.1:c.427del | XP_011512357.1:p.Ser143ValfsTer8 | |
| XM_011514053.3:c.946del | XP_011512355.1:p.Ser316ValfsTer8 | |
| XM_011514054.2:c.523del | XP_011512356.1:p.Ser175ValfsTer8 | |
| XM_011514055.3:c.427del | XP_011512357.1:p.Ser143ValfsTer8 | |
| XM_024446117.1:c.301del | XP_024301885.1:p.Ser101ValfsTer8 | |
| XM_024446118.1:c.301del | XP_024301886.1:p.Ser101ValfsTer8 | |
| NM_001034850.3:c.826del MANE Select | NP_001030022.1:p.Ser276ValfsTer8 | |
| NM_019000.5:c.403del | NP_061873.2:p.Ser135ValfsTer8 |