Linked Data
ClinVar Variation Id:
1453479
ClinVar RCV Id:
RCV002002431
dbSNP Id:
rs2145484269
gnomAD v4:
20-63406923-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406925del , CM000682.2:g.63406925del | GRCh38 |
| NC_000020.10:g.62038278del , CM000682.1:g.62038278del | GRCh37 |
| NC_000020.9:g.61508722del | NCBI36 |
| NG_009004.1:g.70717del | |
| NG_009004.2:g.70717del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2393del | ENSP00000516702.1:p.Asn798ThrfsTer? | |
| ENST00000359125.7:c.2339del MANE Select | ENSP00000352035.2:p.Asn780ThrfsTer? | |
| ENST00000637193.1:c.1736del | ENSP00000490734.1:p.Asn579ThrfsTer? | |
| ENST00000344462.8:c.2246del | ENSP00000339611.4:p.Asn749ThrfsTer? | |
| ENST00000357249.6:c.1907del | ENSP00000349789.3:p.Asn636ThrfsTer? | |
| ENST00000359125.6:c.2339del | ENSP00000352035.2:p.Asn780ThrfsTer? | |
| ENST00000360480.7:c.2255del | ENSP00000353668.3:p.Asn752ThrfsTer? | |
| ENST00000370224.5:c.2241+122del | ENSP00000359244.2:n.2241+122del | |
| ENST00000625514.2:c.2205+122del | ENSP00000486040.1:n.2205+122del | |
| ENST00000626839.2:c.2285del | ENSP00000486706.1:p.Asn762ThrfsTer? | |
| ENST00000629241.2:c.2133+122del | ENSP00000487142.1:n.2133+122del | |
| ENST00000629676.2:c.1680-6081del | ENSP00000486194.1:n.1680-6081del | |
| NM_004518.4:c.2255del | NP_004509.2:p.Asn752ThrfsTer? | |
| NM_172106.1:c.2285del | NP_742104.1:p.Asn762ThrfsTer? | |
| NM_172107.2:c.2339del | NP_742105.1:p.Asn780ThrfsTer? | |
| NM_172108.3:c.2246del | NP_742106.1:p.Asn749ThrfsTer? | |
| XM_006723787.1:c.2381del | XP_006723850.1:p.Asn794ThrfsTer? | |
| XM_011528807.1:c.2447del | XP_011527109.1:p.Asn816ThrfsTer? | |
| XM_011528808.1:c.2444del | XP_011527110.1:p.Asn815ThrfsTer? | |
| XM_011528809.1:c.2417del | XP_011527111.1:p.Asn806ThrfsTer? | |
| XM_011528810.1:c.2393del | XP_011527112.1:p.Asn798ThrfsTer? | |
| XM_011528811.1:c.2363del | XP_011527113.1:p.Asn788ThrfsTer? | |
| XM_011528812.1:c.2336del | XP_011527114.1:p.Asn779ThrfsTer? | |
| XM_011528813.1:c.2321del | XP_011527115.1:p.Asn774ThrfsTer? | |
| XM_011528814.1:c.1928del | XP_011527116.1:p.Asn643ThrfsTer? | |
| NM_004518.5:c.2255del | NP_004509.2:p.Asn752ThrfsTer? | |
| NM_172106.2:c.2285del | NP_742104.1:p.Asn762ThrfsTer? | |
| NM_172107.3:c.2339del | NP_742105.1:p.Asn780ThrfsTer? | |
| NM_172108.4:c.2246del | NP_742106.1:p.Asn749ThrfsTer? | |
| XM_011528810.2:c.2393del | XP_011527112.1:p.Asn798ThrfsTer? | |
| XM_011528811.2:c.2363del | XP_011527113.1:p.Asn788ThrfsTer? | |
| XM_017027841.2:c.2390del | XP_016883330.1:p.Asn797ThrfsTer? | |
| XM_017027842.2:c.2327del | XP_016883331.1:p.Asn776ThrfsTer? | |
| XM_017027843.1:c.2324del | XP_016883332.1:p.Asn775ThrfsTer? | |
| XM_017027844.2:c.2282del | XP_016883333.1:p.Asn761ThrfsTer? | |
| XM_017027845.1:c.1355del | XP_016883334.1:p.Asn452ThrfsTer? | |
| NM_004518.6:c.2255del | NP_004509.2:p.Asn752ThrfsTer? | |
| NM_172106.3:c.2285del | NP_742104.1:p.Asn762ThrfsTer? | |
| NM_172107.4:c.2339del MANE Select | NP_742105.1:p.Asn780ThrfsTer? | |
| NM_172108.5:c.2246del | NP_742106.1:p.Asn749ThrfsTer? | |
| NM_001382235.1:c.2393del | NP_001369164.1:p.Asn798ThrfsTer? |