Linked Data
ClinVar Variation Id:
1457739
ClinVar RCV Id:
RCV001972704
dbSNP Id:
rs2125469935
gnomAD v4:
3-33018484-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33018486del , CM000665.2:g.33018486del | GRCh38 |
| NC_000003.11:g.33059978del , CM000665.1:g.33059978del | GRCh37 |
| NC_000003.10:g.33034982del | NCBI36 |
| NG_009005.1:g.83718del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1310del MANE Select | ENSP00000306920.4:p.Asn437MetfsTer24 | |
| ENST00000307363.9:c.1310del | ENSP00000306920.4:p.Asn437MetfsTer24 | |
| ENST00000307377.12:c.917del | ENSP00000305920.8:p.Asn306MetfsTer24 | |
| ENST00000399402.7:c.1220del | ENSP00000382333.2:p.Asn407MetfsTer24 | |
| ENST00000461475.5:n.409del | ||
| ENST00000467571.5:n.347del | ||
| ENST00000497796.5:n.562del | ||
| NM_000404.2:c.1310del | NP_000395.2:p.Asn437MetfsTer24 | |
| NM_000404.3:c.1310del | NP_000395.2:p.Asn437MetfsTer24 | |
| NM_001079811.1:c.1220del | NP_001073279.1:p.Asn407MetfsTer24 | |
| NM_001079811.2:c.1220del | NP_001073279.1:p.Asn407MetfsTer24 | |
| NM_001135602.1:c.917del | NP_001129074.1:p.Asn306MetfsTer24 | |
| NM_001135602.2:c.917del | NP_001129074.1:p.Asn306MetfsTer24 | |
| NM_001317040.1:c.1454del | NP_001303969.1:p.Asn485MetfsTer24 | |
| NM_000404.4:c.1310del MANE Select | NP_000395.3:p.Asn437MetfsTer24 | |
| NM_001079811.3:c.1220del | NP_001073279.2:p.Asn407MetfsTer24 | |
| NM_001135602.3:c.917del | NP_001129074.2:p.Asn306MetfsTer24 | |
| NM_001317040.2:c.1454del | NP_001303969.2:p.Asn485MetfsTer24 | |
| NM_001393580.1:c.1310del | NP_001380509.1:p.Asn437MetfsTer24 |