Linked Data
ClinVar Variation Id:
60561
ClinVar RCV Id:
RCV000054449
dbSNP Id:
rs397514045
PubMed:
PMID:23137101
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7585042del , CM000668.2:g.7585042del | GRCh38 |
| NC_000006.11:g.7585275del , CM000668.1:g.7585275del | GRCh37 |
| NC_000006.10:g.7530274del | NCBI36 |
| NG_008803.1:g.48406del , LRG_423:g.48406del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710359.1:c.6451del | ENSP00000518230.1:p.Ser2151ProfsTer9 | |
| ENST00000379802.8:c.7780del MANE Select | ENSP00000369129.3:p.Ser2594ProfsTer9 | |
| ENST00000379802.7:c.7780del | ENSP00000369129.3:p.Ser2594ProfsTer9 | |
| ENST00000418664.2:c.5983del | ENSP00000396591.2:p.Ser1995ProfsTer9 | |
| NM_001008844.1:c.5983del | NP_001008844.1:p.Ser1995ProfsTer9 | |
| NM_004415.2:c.7780del , LRG_423t1:c.7780del | NP_004406.2:p.Ser2594ProfsTer9 | |
| XM_011514323.1:c.6451del | XP_011512625.1:p.Ser2151ProfsTer9 | |
| NM_001008844.2:c.5983del | NP_001008844.1:p.Ser1995ProfsTer9 | |
| NM_001319034.1:c.6451del | NP_001305963.1:p.Ser2151ProfsTer9 | |
| NM_004415.3:c.7780del | NP_004406.2:p.Ser2594ProfsTer9 | |
| NM_004415.4:c.7780del MANE Select | NP_004406.2:p.Ser2594ProfsTer9 | |
| NM_001008844.3:c.5983del | NP_001008844.1:p.Ser1995ProfsTer9 | |
| NM_001319034.2:c.6451del | NP_001305963.1:p.Ser2151ProfsTer9 |