Linked Data
ClinVar Variation Id:
190380
ClinVar RCV Id:
RCV000170519
dbSNP Id:
rs876657391
COSMIC:
COSM1353822
PubMed:
PMID:24668755
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44275626del , CM000673.2:g.44275626del | GRCh38 |
| NC_000011.9:g.44297176del , CM000673.1:g.44297176del | GRCh37 |
| NC_000011.8:g.44253752del | NCBI36 |
| NG_015809.1:g.39545del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000652299.1:c.503del MANE Select | ENSP00000498217.1:p.Pro168LeufsTer13 | |
| ENST00000329255.3:c.503del | ENSP00000332744.3:p.Pro168LeufsTer13 | |
| NM_021926.3:c.503del | NP_068745.2:p.Pro168LeufsTer13 | |
| XM_011520264.1:c.503del | XP_011518566.1:p.Pro168LeufsTer13 | |
| XM_011520265.1:c.-20del | XP_011518567.1:n.-20del | |
| XM_011520266.1:c.-20del | XP_011518568.1:n.-20del | |
| NM_021926.4:c.503del MANE Select | NP_068745.2:p.Pro168LeufsTer13 |