Linked Data
ClinVar Variation Id:
537539
dbSNP Id:
rs1554086030
COSMIC:
COSM5734024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840232_112840236del , CM000667.2:g.112840232_112840236del | GRCh38 |
| NC_000005.9:g.112175929_112175933del , CM000667.1:g.112175929_112175933del | GRCh37 |
| NC_000005.8:g.112203828_112203832del | NCBI36 |
| NG_008481.4:g.152712_152716del , LRG_130:g.152712_152716del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4692_4696del | ENSP00000473355.2:p.Asn1564LysfsTer11 | |
| ENST00000505350.2:c.*4644_*4648del | ENSP00000481752.1:n.*4644_*4648del | |
| ENST00000507379.6:c.4584_4588del | ENSP00000423224.2:p.Asn1528LysfsTer11 | |
| ENST00000509732.6:c.4638_4642del | ENSP00000426541.2:p.Asn1546LysfsTer11 | |
| ENST00000512211.7:c.4638_4642del | ENSP00000423828.3:p.Asn1546LysfsTer11 | |
| ENST00000257430.9:c.4638_4642del MANE Select | ENSP00000257430.4:p.Asn1546LysfsTer11 | |
| ENST00000257430.8:c.4638_4642del | ENSP00000257430.4:p.Asn1546LysfsTer11 | |
| ENST00000508376.6:c.4638_4642del | ENSP00000427089.2:p.Asn1546LysfsTer11 | |
| ENST00000508624.5:c.*3960_*3964del | ENSP00000424265.1:n.*3960_*3964del | |
| ENST00000520401.1:c.230+11260_230+11264del | ||
| NM_000038.5:c.4638_4642del | NP_000029.2:p.Asn1546LysfsTer11 | |
| NM_001127510.2:c.4638_4642del | NP_001120982.1:p.Asn1546LysfsTer11 | |
| NM_001127511.2:c.4584_4588del | NP_001120983.2:p.Asn1528LysfsTer11 | |
| NM_001354895.1:c.4638_4642del | NP_001341824.1:p.Asn1546LysfsTer11 | |
| NM_001354896.1:c.4692_4696del | NP_001341825.1:p.Asn1564LysfsTer11 | |
| NM_001354897.1:c.4668_4672del | NP_001341826.1:p.Asn1556LysfsTer11 | |
| NM_001354898.1:c.4563_4567del | NP_001341827.1:p.Asn1521LysfsTer11 | |
| NM_001354899.1:c.4554_4558del | NP_001341828.1:p.Asn1518LysfsTer11 | |
| NM_001354900.1:c.4515_4519del | NP_001341829.1:p.Asn1505LysfsTer11 | |
| NM_001354901.1:c.4461_4465del | NP_001341830.1:p.Asn1487LysfsTer11 | |
| NM_001354902.1:c.4365_4369del | NP_001341831.1:p.Asn1455LysfsTer11 | |
| NM_001354903.1:c.4335_4339del | NP_001341832.1:p.Asn1445LysfsTer11 | |
| NM_001354904.1:c.4260_4264del | NP_001341833.1:p.Asn1420LysfsTer11 | |
| NM_001354905.1:c.4158_4162del | NP_001341834.1:p.Asn1386LysfsTer11 | |
| NM_001354906.1:c.3789_3793del | NP_001341835.1:p.Asn1263LysfsTer11 | |
| NM_000038.6:c.4638_4642del MANE Select | NP_000029.2:p.Asn1546LysfsTer11 | |
| NM_001127510.3:c.4638_4642del | NP_001120982.1:p.Asn1546LysfsTer11 | |
| NM_001127511.3:c.4584_4588del | NP_001120983.2:p.Asn1528LysfsTer11 | |
| NM_001354895.2:c.4638_4642del | NP_001341824.1:p.Asn1546LysfsTer11 | |
| NM_001354896.2:c.4692_4696del | NP_001341825.1:p.Asn1564LysfsTer11 | |
| NM_001354897.2:c.4668_4672del | NP_001341826.1:p.Asn1556LysfsTer11 | |
| NM_001354898.2:c.4563_4567del | NP_001341827.1:p.Asn1521LysfsTer11 | |
| NM_001354899.2:c.4554_4558del | NP_001341828.1:p.Asn1518LysfsTer11 | |
| NM_001354900.2:c.4515_4519del | NP_001341829.1:p.Asn1505LysfsTer11 | |
| NM_001354901.2:c.4461_4465del | NP_001341830.1:p.Asn1487LysfsTer11 | |
| NM_001354902.2:c.4365_4369del | NP_001341831.1:p.Asn1455LysfsTer11 | |
| NM_001354903.2:c.4335_4339del | NP_001341832.1:p.Asn1445LysfsTer11 | |
| NM_001354904.2:c.4260_4264del | NP_001341833.1:p.Asn1420LysfsTer11 | |
| NM_001354905.2:c.4158_4162del | NP_001341834.1:p.Asn1386LysfsTer11 | |
| NM_001354906.2:c.3789_3793del | NP_001341835.1:p.Asn1263LysfsTer11 |