Linked Data
ClinVar Variation Id:
56721
ClinVar RCV Id:
RCV000050134
dbSNP Id:
rs386834140
PubMed:
PMID:15883308
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41161387del , CM000668.2:g.41161387del | GRCh38 |
| NC_000006.11:g.41129125del , CM000668.1:g.41129125del | GRCh37 |
| NC_000006.10:g.41237103del | NCBI36 |
| NG_011561.1:g.6800del , LRG_631:g.6800del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373113.8:c.269del MANE Select | ENSP00000362205.3:p.Gly90ValfsTer? | |
| ENST00000338469.3:c.269del | ENSP00000342651.4:p.Gly90ValfsTer? | |
| ENST00000373113.7:c.269del | ENSP00000362205.3:p.Gly90ValfsTer? | |
| ENST00000373122.8:c.269del | ENSP00000362214.4:p.Gly90ValfsTer? | |
| NM_001271821.1:c.269del | NP_001258750.1:p.Gly90ValfsTer? | |
| NM_018965.3:c.269del , LRG_631t1:c.269del | NP_061838.1:p.Gly90ValfsTer? | |
| XM_006715116.2:c.131-1503del | XP_006715179.1:n.131-1503del | |
| XR_926795.1:n.222+5824del | ||
| XR_926796.1:n.214+5824del | ||
| XR_926797.1:n.188+5824del | ||
| XR_926795.2:n.517+5824del | ||
| XR_926797.2:n.232+5824del | ||
| NM_001271821.2:c.269del | NP_001258750.1:p.Gly90ValfsTer? | |
| NM_018965.4:c.269del MANE Select | NP_061838.1:p.Gly90ValfsTer? |