Linked Data
ClinVar Variation Id:
183880
ClinVar RCV Id:
RCV000162741
dbSNP Id:
rs786201134
PubMed:
PMID:26023681
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112841351del , CM000667.2:g.112841351del | GRCh38 |
| NC_000005.9:g.112177048del , CM000667.1:g.112177048del | GRCh37 |
| NC_000005.8:g.112204947del | NCBI36 |
| NG_008481.4:g.153831del , LRG_130:g.153831del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504915.3:c.5811del | ENSP00000473355.2:p.Arg1938GlufsTer? | |
| ENST00000505350.2:c.*5763del | ENSP00000481752.1:n.*5763del | |
| ENST00000507379.6:c.5703del | ENSP00000423224.2:p.Arg1902GlufsTer? | |
| ENST00000509732.6:c.5757del | ENSP00000426541.2:p.Arg1920GlufsTer? | |
| ENST00000512211.7:c.5757del | ENSP00000423828.3:p.Arg1920GlufsTer? | |
| ENST00000257430.9:c.5757del MANE Select | ENSP00000257430.4:p.Arg1920GlufsTer? | |
| ENST00000257430.8:c.5757del | ENSP00000257430.4:p.Arg1920GlufsTer? | |
| ENST00000508376.6:c.5757del | ENSP00000427089.2:p.Arg1920GlufsTer? | |
| ENST00000508624.5:c.*5079del | ENSP00000424265.1:n.*5079del | |
| ENST00000520401.1:c.230+12379del | ||
| NM_000038.5:c.5757del | NP_000029.2:p.Arg1920GlufsTer? | |
| NM_001127510.2:c.5757del | NP_001120982.1:p.Arg1920GlufsTer? | |
| NM_001127511.2:c.5703del | NP_001120983.2:p.Arg1902GlufsTer? | |
| NM_001354895.1:c.5757del | NP_001341824.1:p.Arg1920GlufsTer? | |
| NM_001354896.1:c.5811del | NP_001341825.1:p.Arg1938GlufsTer? | |
| NM_001354897.1:c.5787del | NP_001341826.1:p.Arg1930GlufsTer? | |
| NM_001354898.1:c.5682del | NP_001341827.1:p.Arg1895GlufsTer? | |
| NM_001354899.1:c.5673del | NP_001341828.1:p.Arg1892GlufsTer? | |
| NM_001354900.1:c.5634del | NP_001341829.1:p.Arg1879GlufsTer? | |
| NM_001354901.1:c.5580del | NP_001341830.1:p.Arg1861GlufsTer? | |
| NM_001354902.1:c.5484del | NP_001341831.1:p.Arg1829GlufsTer? | |
| NM_001354903.1:c.5454del | NP_001341832.1:p.Arg1819GlufsTer? | |
| NM_001354904.1:c.5379del | NP_001341833.1:p.Arg1794GlufsTer? | |
| NM_001354905.1:c.5277del | NP_001341834.1:p.Arg1760GlufsTer? | |
| NM_001354906.1:c.4908del | NP_001341835.1:p.Arg1637GlufsTer? | |
| NM_000038.6:c.5757del MANE Select | NP_000029.2:p.Arg1920GlufsTer? | |
| NM_001127510.3:c.5757del | NP_001120982.1:p.Arg1920GlufsTer? | |
| NM_001127511.3:c.5703del | NP_001120983.2:p.Arg1902GlufsTer? | |
| NM_001354895.2:c.5757del | NP_001341824.1:p.Arg1920GlufsTer? | |
| NM_001354896.2:c.5811del | NP_001341825.1:p.Arg1938GlufsTer? | |
| NM_001354897.2:c.5787del | NP_001341826.1:p.Arg1930GlufsTer? | |
| NM_001354898.2:c.5682del | NP_001341827.1:p.Arg1895GlufsTer? | |
| NM_001354899.2:c.5673del | NP_001341828.1:p.Arg1892GlufsTer? | |
| NM_001354900.2:c.5634del | NP_001341829.1:p.Arg1879GlufsTer? | |
| NM_001354901.2:c.5580del | NP_001341830.1:p.Arg1861GlufsTer? | |
| NM_001354902.2:c.5484del | NP_001341831.1:p.Arg1829GlufsTer? | |
| NM_001354903.2:c.5454del | NP_001341832.1:p.Arg1819GlufsTer? | |
| NM_001354904.2:c.5379del | NP_001341833.1:p.Arg1794GlufsTer? | |
| NM_001354905.2:c.5277del | NP_001341834.1:p.Arg1760GlufsTer? | |
| NM_001354906.2:c.4908del | NP_001341835.1:p.Arg1637GlufsTer? |