Linked Data
ClinVar Variation Id:
411536
ClinVar RCV Id:
RCV000584256
dbSNP Id:
rs1060503360
COSMIC:
COSM3768891
PubMed:
PMID:9067764
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112835086_112835089del , CM000667.2:g.112835086_112835089del | GRCh38 |
| NC_000005.9:g.112170783_112170786del , CM000667.1:g.112170783_112170786del | GRCh37 |
| NC_000005.8:g.112198682_112198685del | NCBI36 |
| NG_008481.4:g.147566_147569del , LRG_130:g.147566_147569del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502371.3:c.1544_1547del | ENSP00000484935.2:n.1544_1547del | |
| ENST00000504915.3:c.1933_1936del | ENSP00000473355.2:p.Asn645LeufsTer2 | |
| ENST00000505350.2:c.*1885_*1888del | ENSP00000481752.1:n.*1885_*1888del | |
| ENST00000507379.6:c.1825_1828del | ENSP00000423224.2:p.Asn609LeufsTer2 | |
| ENST00000509732.6:c.1879_1882del | ENSP00000426541.2:p.Asn627LeufsTer2 | |
| ENST00000512211.7:c.1879_1882del | ENSP00000423828.3:p.Asn627LeufsTer2 | |
| ENST00000257430.9:c.1879_1882del MANE Select | ENSP00000257430.4:p.Asn627LeufsTer2 | |
| ENST00000257430.8:c.1879_1882del | ENSP00000257430.4:p.Asn627LeufsTer2 | |
| ENST00000502371.2:c.232_235del | ||
| ENST00000504915.2:c.568_571del | ENSP00000473355.1:p.Asn190LeufsTer2 | |
| ENST00000507379.5:c.1825_1828del | ENSP00000423224.1:p.Asn609LeufsTer2 | |
| ENST00000508376.6:c.1879_1882del | ENSP00000427089.2:p.Asn627LeufsTer2 | |
| ENST00000508624.5:c.*1201_*1204del | ENSP00000424265.1:n.*1201_*1204del | |
| ENST00000512211.6:c.1879_1882del | ENSP00000423828.2:p.Asn627LeufsTer2 | |
| ENST00000520401.1:c.230+6114_230+6117del | ||
| NM_000038.5:c.1879_1882del | NP_000029.2:p.Asn627LeufsTer2 | |
| NM_001127510.2:c.1879_1882del | NP_001120982.1:p.Asn627LeufsTer2 | |
| NM_001127511.2:c.1825_1828del | NP_001120983.2:p.Asn609LeufsTer2 | |
| NM_001354895.1:c.1879_1882del | NP_001341824.1:p.Asn627LeufsTer2 | |
| NM_001354896.1:c.1933_1936del | NP_001341825.1:p.Asn645LeufsTer2 | |
| NM_001354897.1:c.1909_1912del | NP_001341826.1:p.Asn637LeufsTer2 | |
| NM_001354898.1:c.1804_1807del | NP_001341827.1:p.Asn602LeufsTer2 | |
| NM_001354899.1:c.1795_1798del | NP_001341828.1:p.Asn599LeufsTer2 | |
| NM_001354900.1:c.1756_1759del | NP_001341829.1:p.Asn586LeufsTer2 | |
| NM_001354901.1:c.1702_1705del | NP_001341830.1:p.Asn568LeufsTer2 | |
| NM_001354902.1:c.1606_1609del | NP_001341831.1:p.Asn536LeufsTer2 | |
| NM_001354903.1:c.1576_1579del | NP_001341832.1:p.Asn526LeufsTer2 | |
| NM_001354904.1:c.1501_1504del | NP_001341833.1:p.Asn501LeufsTer2 | |
| NM_001354905.1:c.1399_1402del | NP_001341834.1:p.Asn467LeufsTer2 | |
| NM_001354906.1:c.1030_1033del | NP_001341835.1:p.Asn344LeufsTer2 | |
| NM_000038.6:c.1879_1882del MANE Select | NP_000029.2:p.Asn627LeufsTer2 | |
| NM_001127510.3:c.1879_1882del | NP_001120982.1:p.Asn627LeufsTer2 | |
| NM_001127511.3:c.1825_1828del | NP_001120983.2:p.Asn609LeufsTer2 | |
| NM_001354895.2:c.1879_1882del | NP_001341824.1:p.Asn627LeufsTer2 | |
| NM_001354896.2:c.1933_1936del | NP_001341825.1:p.Asn645LeufsTer2 | |
| NM_001354897.2:c.1909_1912del | NP_001341826.1:p.Asn637LeufsTer2 | |
| NM_001354898.2:c.1804_1807del | NP_001341827.1:p.Asn602LeufsTer2 | |
| NM_001354899.2:c.1795_1798del | NP_001341828.1:p.Asn599LeufsTer2 | |
| NM_001354900.2:c.1756_1759del | NP_001341829.1:p.Asn586LeufsTer2 | |
| NM_001354901.2:c.1702_1705del | NP_001341830.1:p.Asn568LeufsTer2 | |
| NM_001354902.2:c.1606_1609del | NP_001341831.1:p.Asn536LeufsTer2 | |
| NM_001354903.2:c.1576_1579del | NP_001341832.1:p.Asn526LeufsTer2 | |
| NM_001354904.2:c.1501_1504del | NP_001341833.1:p.Asn501LeufsTer2 | |
| NM_001354905.2:c.1399_1402del | NP_001341834.1:p.Asn467LeufsTer2 | |
| NM_001354906.2:c.1030_1033del | NP_001341835.1:p.Asn344LeufsTer2 |