Linked Data
ClinVar Variation Id:
446366
ClinVar RCV Id:
RCV000019919
dbSNP Id:
rs1553150995
gnomAD v4:
1-33013377-CG-C
PubMed:
PMID:19043416
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.33013378del , CM000663.2:g.33013378del | GRCh38 |
| NC_000001.10:g.33478979del , CM000663.1:g.33478979del | GRCh37 |
| NC_000001.9:g.33251566del | NCBI36 |
| NG_016269.1:g.28514del , LRG_133:g.28514del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000469238.2:n.1675del | ||
| ENST00000491241.2:c.*512del | ENSP00000512049.1:n.*512del | |
| ENST00000550338.6:c.*512del | ENSP00000450008.1:n.*512del | |
| ENST00000695598.1:n.1662del | ||
| ENST00000695599.1:c.*5405del | ENSP00000512046.1:n.*5405del | |
| ENST00000695600.1:n.1837del | ||
| ENST00000695601.1:c.*512del | ENSP00000512047.1:n.*512del | |
| ENST00000695602.1:c.*512del | ENSP00000512048.1:n.*512del | |
| ENST00000695603.1:n.1675del | ||
| ENST00000695604.1:c.*329del | ENSP00000512050.1:n.*329del | |
| ENST00000354858.11:c.397del | ENSP00000346921.7:p.Arg133AspfsTer9 | |
| ENST00000373449.7:c.523del | ENSP00000362548.2:p.Arg175AspfsTer9 | |
| ENST00000672308.1:n.558del | ||
| ENST00000672715.1:c.523del MANE Select | ENSP00000499935.1:p.Arg175AspfsTer9 | |
| ENST00000354858.10:c.523del | ENSP00000346921.6:p.Arg175AspfsTer9 | |
| ENST00000373449.6:c.523del | ENSP00000362548.2:p.Arg175AspfsTer9 | |
| ENST00000467905.5:c.523del | ENSP00000447082.1:p.Arg175AspfsTer9 | |
| ENST00000480134.5:c.*26del | ENSP00000450109.1:n.*26del | |
| ENST00000548033.5:c.397del | ENSP00000449003.1:p.Arg133AspfsTer9 | |
| ENST00000550338.5:c.*512del | ENSP00000450008.1:n.*512del | |
| ENST00000629371.2:c.*26del | ENSP00000486507.1:n.*26del | |
| NM_001199199.1:c.499del | NP_001186128.1:p.Arg167AspfsTer9 | |
| NM_001625.3:c.523del | NP_001616.1:p.Arg175AspfsTer9 | |
| NM_013411.4:c.523del | NP_037543.1:p.Arg175AspfsTer9 | |
| NR_037591.1:n.724del | ||
| NR_037592.1:n.724del | ||
| XM_011540967.1:c.*26del | XP_011539269.1:n.*26del | |
| XR_246248.1:n.563del | ||
| XR_946575.1:n.468del | ||
| NM_001319139.1:c.379del | NP_001306068.1:p.Arg127AspfsTer9 | |
| NM_001319140.1:c.379del | NP_001306069.1:p.Arg127AspfsTer9 | |
| NM_001319141.1:c.523del | NP_001306070.1:p.Arg175AspfsTer9 | |
| NM_001319142.1:c.397del | NP_001306071.1:p.Arg133AspfsTer9 | |
| NM_001319143.1:c.*26del | NP_001306072.1:n.*26del | |
| NR_134976.1:n.511del | ||
| XR_001737036.1:n.468del | ||
| XR_246248.2:n.563del | ||
| NM_001199199.2:c.499del | NP_001186128.1:p.Arg167AspfsTer9 | |
| NM_001319139.2:c.379del | NP_001306068.1:p.Arg127AspfsTer9 | |
| NM_001319141.2:c.523del | NP_001306070.1:p.Arg175AspfsTer9 | |
| NM_001319142.2:c.397del | NP_001306071.1:p.Arg133AspfsTer9 | |
| NM_001625.4:c.523del MANE Select | NP_001616.1:p.Arg175AspfsTer9 | |
| NM_013411.5:c.523del | NP_037543.1:p.Arg175AspfsTer9 | |
| NR_134976.2:n.483del | ||
| NM_001199199.3:c.499del | NP_001186128.1:p.Arg167AspfsTer9 | |
| NM_001319139.3:c.379del | NP_001306068.1:p.Arg127AspfsTer9 | |
| NM_001319140.2:c.379del | NP_001306069.1:p.Arg127AspfsTer9 | |
| NM_001319141.3:c.523del | NP_001306070.1:p.Arg175AspfsTer9 | |
| NM_001319142.3:c.397del | NP_001306071.1:p.Arg133AspfsTer9 | |
| NM_001319143.2:c.*26del | NP_001306072.1:n.*26del | |
| NR_134976.3:n.483del |