Linked Data
ClinVar Variation Id:
1918406
ClinVar RCV Id:
RCV002625826
dbSNP Id:
rs1258631528
gnomAD v2:
20-45204340-GA-G
gnomAD v4:
20-46575701-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46575702del , CM000682.2:g.46575702del | GRCh38 |
| NC_000020.10:g.45204341del , CM000682.1:g.45204341del | GRCh37 |
| NC_000020.9:g.44637748del | NCBI36 |
| NG_047182.1:g.113784del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279027.9:c.1220-17del MANE Select | ENSP00000279027.4:n.1220-17del | |
| ENST00000279027.8:c.1220-17del | ENSP00000279027.4:n.1220-17del | |
| ENST00000290317.9:c.1079-17del | ENSP00000290317.5:n.1079-17del | |
| ENST00000413164.6:c.1070-17del | ENSP00000415852.2:n.1070-17del | |
| ENST00000468915.5:c.1079-17del | ENSP00000417784.1:n.1079-17del | |
| ENST00000472148.5:c.974-17del | ENSP00000420177.1:n.974-17del | |
| ENST00000495082.5:c.1079-17del | ENSP00000419621.1:n.1079-17del | |
| NM_001011554.2:c.1079-17del | NP_001011554.1:n.1079-17del | |
| NM_001193339.1:c.1070-17del | NP_001180268.1:n.1070-17del | |
| NM_001193340.1:c.974-17del | NP_001180269.1:n.974-17del | |
| NM_001193342.1:c.926-17del | NP_001180271.1:n.926-17del | |
| NM_022829.5:c.1220-17del | NP_073740.2:n.1220-17del | |
| NM_022829.6:c.1220-17del MANE Select | NP_073740.2:n.1220-17del | |
| NM_001011554.3:c.1079-17del | NP_001011554.1:n.1079-17del | |
| NM_001193339.2:c.1070-17del | NP_001180268.1:n.1070-17del | |
| NM_001193340.2:c.974-17del | NP_001180269.1:n.974-17del | |
| NM_001193342.2:c.926-17del | NP_001180271.1:n.926-17del |