Linked Data
ClinVar Variation Id:
1473458
ClinVar RCV Id:
RCV002005262
dbSNP Id:
rs759633494
gnomAD v4:
3-32997072-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32997079del , CM000665.2:g.32997079del | GRCh38 |
| NC_000003.11:g.33038571del , CM000665.1:g.33038571del | GRCh37 |
| NC_000003.10:g.33013575del | NCBI36 |
| NG_009005.1:g.105130del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.2006del MANE Select | ENSP00000306920.4:p.Asn669ThrfsTer17 | |
| ENST00000307363.9:c.2006del | ENSP00000306920.4:p.Asn669ThrfsTer17 | |
| ENST00000307377.12:c.1613del | ENSP00000305920.8:p.Asn538ThrfsTer17 | |
| ENST00000399402.7:c.1916del | ENSP00000382333.2:p.Asn639ThrfsTer17 | |
| NM_000404.2:c.2006del | NP_000395.2:p.Asn669ThrfsTer17 | |
| NM_000404.3:c.2006del | NP_000395.2:p.Asn669ThrfsTer17 | |
| NM_001079811.1:c.1916del | NP_001073279.1:p.Asn639ThrfsTer17 | |
| NM_001079811.2:c.1916del | NP_001073279.1:p.Asn639ThrfsTer17 | |
| NM_001135602.1:c.1613del | NP_001129074.1:p.Asn538ThrfsTer17 | |
| NM_001135602.2:c.1613del | NP_001129074.1:p.Asn538ThrfsTer17 | |
| NM_001317040.1:c.2150del | NP_001303969.1:p.Asn717ThrfsTer17 | |
| NM_000404.4:c.2006del MANE Select | NP_000395.3:p.Asn669ThrfsTer17 | |
| NM_001079811.3:c.1916del | NP_001073279.2:p.Asn639ThrfsTer17 | |
| NM_001135602.3:c.1613del | NP_001129074.2:p.Asn538ThrfsTer17 | |
| NM_001317040.2:c.2150del | NP_001303969.2:p.Asn717ThrfsTer17 | |
| NM_001393580.1:c.1734+16983del | NP_001380509.1:n.1734+16983del |