Linked Data
ClinVar Variation Id:
558021
ClinVar RCV Id:
RCV000674234
dbSNP Id:
rs1389725640
gnomAD v2:
11-17531091-GC-G
gnomAD v3:
11-17509544-GC-G
gnomAD v4:
11-17509544-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17509545del , CM000673.2:g.17509545del | GRCh38 |
| NC_000011.9:g.17531092del , CM000673.1:g.17531092del | GRCh37 |
| NC_000011.8:g.17487668del | NCBI36 |
| NG_011883.1:g.39872del | |
| NG_011883.2:g.39872del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005226.12:c.1824del MANE Select | ENSP00000005226.7:p.Pro609HisfsTer22 | |
| ENST00000318024.9:c.1285-7565del MANE Plus Clinical | ENSP00000317018.4:n.1285-7565del | |
| ENST00000005226.11:c.1824del | ENSP00000005226.7:p.Pro609HisfsTer22 | |
| ENST00000318024.8:c.1285-7565del | ENSP00000317018.4:n.1285-7565del | |
| ENST00000526313.5:c.1211-7565del | ENSP00000432236.1:n.1211-7565del | |
| ENST00000527020.5:c.1228-7565del | ENSP00000436934.1:n.1228-7565del | |
| ENST00000527720.5:c.1192-7565del | ENSP00000432944.1:n.1192-7565del | |
| ENST00000529563.5:n.168+6910del | ||
| NM_001297764.1:c.1228-7565del | NP_001284693.1:n.1228-7565del | |
| NM_005709.3:c.1285-7565del | NP_005700.2:n.1285-7565del | |
| NM_153676.3:c.1824del | NP_710142.1:p.Pro609HisfsTer22 | |
| NR_123738.1:n.1320-7565del | ||
| XM_011519831.1:c.1848del | XP_011518133.1:p.Pro617HisfsTer22 | |
| XM_011519832.1:c.1437+2357del | XP_011518134.1:n.1437+2357del | |
| XM_011519833.1:c.1334+6696del | XP_011518135.1:n.1334+6696del | |
| XR_930841.1:n.1655+2357del | ||
| XR_930842.1:n.1596+2357del | ||
| XM_011519832.3:c.1437+2357del | XP_011518134.1:n.1437+2357del | |
| XM_017017072.1:c.1848del | XP_016872561.1:p.Pro617HisfsTer22 | |
| XM_017017073.1:c.1791del | XP_016872562.1:p.Pro598HisfsTer22 | |
| XM_017017074.1:c.1555-316del | XP_016872563.1:n.1555-316del | |
| XM_017017075.1:c.1824del | XP_016872564.1:p.Pro609HisfsTer22 | |
| XR_001747717.2:n.1443+6696del | ||
| NM_153676.4:c.1824del MANE Select | NP_710142.1:p.Pro609HisfsTer22 | |
| NM_001297764.2:c.1228-7565del | NP_001284693.1:n.1228-7565del | |
| NM_005709.4:c.1285-7565del MANE Plus Clinical | NP_005700.2:n.1285-7565del | |
| NR_123738.2:n.1320-7565del |