Linked Data
ClinVar Variation Id:
233
ClinVar RCV Id:
RCV000000257
dbSNP Id:
rs606231351
PubMed:
PMID:19853237
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.53613681del , CM000677.2:g.53613681del | GRCh38 |
| NC_000015.9:g.53905878del , CM000677.1:g.53905878del | GRCh37 |
| NC_000015.8:g.51693170del | NCBI36 |
| NG_017034.2:g.150982del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360509.10:c.2857del MANE Select | ENSP00000353699.5:p.Ser953ValfsTer20 | |
| ENST00000360509.9:c.2857del | ENSP00000353699.5:p.Ser953ValfsTer20 | |
| ENST00000396328.5:c.2857del | ENSP00000379619.1:p.Ser953ValfsTer20 | |
| ENST00000557913.5:c.2848del | ENSP00000453378.1:p.Ser950ValfsTer20 | |
| ENST00000559418.5:c.2887del | ENSP00000452765.1:p.Ser963ValfsTer20 | |
| NM_182758.3:c.2857del | NP_877435.3:p.Ser953ValfsTer20 | |
| NR_102334.1:n.3097del | ||
| XM_011521433.1:c.2857del | XP_011519735.1:p.Ser953ValfsTer20 | |
| XM_011521434.1:c.2857del | XP_011519736.1:p.Ser953ValfsTer20 | |
| XM_011521435.1:c.2857del | XP_011519737.1:p.Ser953ValfsTer20 | |
| XM_011521436.1:c.2839del | XP_011519738.1:p.Ser947ValfsTer20 | |
| XM_011521437.1:c.2737del | XP_011519739.1:p.Ser913ValfsTer20 | |
| XM_011521433.2:c.2857del | XP_011519735.1:p.Ser953ValfsTer20 | |
| XM_011521435.2:c.2857del | XP_011519737.1:p.Ser953ValfsTer20 | |
| XM_011521436.2:c.2839del | XP_011519738.1:p.Ser947ValfsTer20 | |
| XM_011521437.2:c.2737del | XP_011519739.1:p.Ser913ValfsTer20 | |
| XM_017022061.1:c.2857del | XP_016877550.1:p.Ser953ValfsTer20 | |
| NM_182758.4:c.2857del MANE Select | NP_877435.3:p.Ser953ValfsTer20 | |
| NR_102334.2:n.3097del |