Linked Data
ClinVar Variation Id:
143802
ClinVar RCV Id:
RCV000133349
dbSNP Id:
rs267608655
PubMed:
PMID:16611748
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18619953_18619957del , CM000685.2:g.18619953_18619957del | GRCh38 |
| NC_000023.10:g.18638073_18638077del , CM000685.1:g.18638073_18638077del | GRCh37 |
| NC_000023.9:g.18547994_18547998del | NCBI36 |
| NG_008475.1:g.199349_199353del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623535.2:c.2363_2367del MANE Select | ENSP00000485244.1:p.Lys788IlefsTer11 | |
| ENST00000635828.1:c.2363_2367del | ENSP00000490170.1:p.Lys788IlefsTer11 | |
| ENST00000674046.1:c.2363_2367del | ENSP00000501174.1:p.Lys788IlefsTer23 | |
| ENST00000379989.6:c.2363_2367del | ENSP00000369325.3:p.Lys788IlefsTer11 | |
| ENST00000379996.7:c.2363_2367del | ENSP00000369332.3:p.Lys788IlefsTer11 | |
| ENST00000623535.1:c.2363_2367del | ENSP00000485244.1:p.Lys788IlefsTer11 | |
| NM_001037343.1:c.2363_2367del | NP_001032420.1:p.Lys788IlefsTer11 | |
| NM_003159.2:c.2363_2367del | NP_003150.1:p.Lys788IlefsTer11 | |
| XM_011545569.1:c.2312_2316del | XP_011543871.1:p.Lys771IlefsTer23 | |
| XM_011545570.1:c.2231_2235del | XP_011543872.1:p.Lys744IlefsTer23 | |
| XR_950484.1:n.2615_2619del | ||
| NM_001323289.1:c.2363_2367del | NP_001310218.1:p.Lys788IlefsTer11 | |
| NM_001323289.2:c.2363_2367del MANE Select | NP_001310218.1:p.Lys788IlefsTer11 | |
| NM_001037343.2:c.2363_2367del | NP_001032420.1:p.Lys788IlefsTer11 | |
| NM_003159.3:c.2363_2367del | NP_003150.1:p.Lys788IlefsTer11 |