Linked Data
ClinVar Variation Id:
427596
ClinVar RCV Id:
RCV000490593
dbSNP Id:
rs1085308054
COSMIC:
COSM921115
PubMed:
PMID:28526761
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87952232_87952233del , CM000672.2:g.87952232_87952233del | GRCh38 |
| NC_000010.10:g.89711989_89711990del , CM000672.1:g.89711989_89711990del | GRCh37 |
| NC_000010.9:g.89701969_89701970del | NCBI36 |
| NG_007466.2:g.93794_93795del , LRG_311:g.93794_93795del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.607_608del | ENSP00000514759.2:p.Ile203SerfsTer? | |
| ENST00000710265.1:c.607_608del | ENSP00000518161.1:p.Ile203SerfsTer? | |
| ENST00000472832.3:c.607_608del | ENSP00000483066.2:p.Ile203SerfsTer? | |
| ENST00000688158.2:n.1342_1343del | ||
| ENST00000688922.2:c.*437_*438del | ENSP00000508742.2:n.*437_*438del | |
| ENST00000700021.1:c.562_563del | ENSP00000514757.1:p.Ile188SerfsTer? | |
| ENST00000700022.1:c.493-5621_493-5620del | ENSP00000514758.1:n.493-5621_493-5620del | |
| ENST00000700023.1:n.1765_1766del | ||
| ENST00000700024.1:n.1999_2000del | ||
| ENST00000700025.1:n.1376_1377del | ||
| ENST00000700029.1:c.441_442del | ||
| ENST00000706954.1:c.607_608del | ENSP00000516674.1:p.Ile203SerfsTer? | |
| ENST00000706955.1:c.*642_*643del | ENSP00000516675.1:n.*642_*643del | |
| ENST00000686459.1:c.*193_*194del | ENSP00000508909.1:n.*193_*194del | |
| ENST00000688158.1:c.*718_*719del | ENSP00000509254.1:n.*718_*719del | |
| ENST00000688308.1:c.607_608del | ENSP00000508752.1:p.Ile203SerfsTer? | |
| ENST00000688922.1:c.528_529del | ||
| ENST00000693560.1:c.1126_1127del | ENSP00000509861.1:p.Ile376SerfsTer? | |
| ENST00000371953.8:c.607_608del MANE Select | ENSP00000361021.3:p.Ile203SerfsTer? | |
| ENST00000371953.7:c.607_608del | ENSP00000361021.3:p.Ile203SerfsTer? | |
| ENST00000472832.2:c.34_35del | ENSP00000483066.1:p.Ile12SerfsTer? | |
| NM_000314.5:c.607_608del | NP_000305.3:p.Ile203SerfsTer? | |
| NM_000314.6:c.607_608del | NP_000305.3:p.Ile203SerfsTer? | |
| NM_001304717.2:c.1126_1127del | NP_001291646.2:p.Ile376SerfsTer? | |
| NM_001304718.1:c.16_17del | NP_001291647.1:p.Ile6SerfsTer? | |
| XM_006717926.2:c.562_563del | XP_006717989.1:p.Ile188SerfsTer? | |
| XM_011539981.1:c.607_608del | XP_011538283.1:p.Ile203SerfsTer? | |
| XM_011539982.1:c.511_512del | XP_011538284.1:p.Ile171SerfsTer? | |
| XR_945791.1:n.1205-5621_1205-5620del | ||
| NM_000314.7:c.607_608del | NP_000305.3:p.Ile203SerfsTer? | |
| NM_001304717.5:c.1126_1127del | NP_001291646.4:p.Ile376SerfsTer? | |
| NM_001304718.2:c.16_17del | NP_001291647.1:p.Ile6SerfsTer? | |
| NM_000314.8:c.607_608del MANE Select | NP_000305.3:p.Ile203SerfsTer? |