Linked Data
dbSNP Id:
rs756596610
ExAC:
20:44520514 CCCCT / C
gnomAD v2:
20-44520514-CCCCT-C
gnomAD v4:
20-45891875-CCCCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45891878_45891881del , CM000682.2:g.45891878_45891881del | GRCh38 |
| NC_000020.10:g.44520517_44520520del , CM000682.1:g.44520517_44520520del | GRCh37 |
| NC_000020.9:g.43953924_43953927del | NCBI36 |
| NG_008291.1:g.5927_5930del | |
| NG_033108.1:g.4409_4412del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480961.3:n.612-38_612-35del | ||
| ENST00000484855.4:n.245-38_245-35del | ||
| ENST00000493522.8:n.223-38_223-35del | ||
| ENST00000606066.3:n.612-38_612-35del | ||
| ENST00000606782.3:n.33_36del | ||
| ENST00000607187.3:n.612-38_612-35del | ||
| ENST00000607212.3:n.368_371del | ||
| ENST00000607814.7:n.334_337del | ||
| ENST00000677755.2:n.258_261del | ||
| ENST00000678622.2:n.612-38_612-35del | ||
| ENST00000678691.2:n.612-38_612-35del | ||
| ENST00000678988.2:n.1234-38_1234-35del | ||
| ENST00000679053.2:n.612-38_612-35del | ||
| ENST00000679343.2:n.612-38_612-35del | ||
| ENST00000684198.1:n.612-38_612-35del | ||
| ENST00000372459.7:c.195-38_195-35del | ENSP00000361537.2:n.195-38_195-35del | |
| ENST00000372484.8:c.249-38_249-35del | ENSP00000361562.3:n.249-38_249-35del | |
| ENST00000419493.3:c.195-38_195-35del | ENSP00000408533.3:n.195-38_195-35del | |
| ENST00000480961.2:n.222-38_222-35del | ||
| ENST00000484855.3:n.245-38_245-35del | ||
| ENST00000493522.7:n.223-38_223-35del | ||
| ENST00000606066.2:n.260-38_260-35del | ||
| ENST00000606394.6:c.248+116_248+119del | ENSP00000475827.1:n.248+116_248+119del | |
| ENST00000606782.2:n.33_36del | ||
| ENST00000607187.2:n.126-38_126-35del | ||
| ENST00000607212.2:n.368_371del | ||
| ENST00000607482.6:c.195-38_195-35del | ENSP00000475524.2:n.195-38_195-35del | |
| ENST00000607814.6:n.334_337del | ||
| ENST00000646241.3:c.195-38_195-35del MANE Select | ENSP00000493613.2:n.195-38_195-35del | |
| ENST00000676526.1:c.249-38_249-35del | ENSP00000504209.1:n.249-38_249-35del | |
| ENST00000676597.1:c.195-38_195-35del | ENSP00000503904.1:n.195-38_195-35del | |
| ENST00000676657.1:c.195-38_195-35del | ENSP00000504158.1:n.195-38_195-35del | |
| ENST00000676967.1:c.195-38_195-35del | ENSP00000502866.1:n.195-38_195-35del | |
| ENST00000677394.1:c.249-38_249-35del | ENSP00000504790.1:n.249-38_249-35del | |
| ENST00000677525.1:c.*18-38_*18-35del | ENSP00000504197.1:n.*18-38_*18-35del | |
| ENST00000677755.1:n.258_261del | ||
| ENST00000678025.1:c.195-38_195-35del | ENSP00000503463.1:n.195-38_195-35del | |
| ENST00000678078.1:c.249-38_249-35del | ENSP00000502993.1:n.249-38_249-35del | |
| ENST00000678217.1:c.195-38_195-35del | ENSP00000504109.1:n.195-38_195-35del | |
| ENST00000678331.1:c.195-38_195-35del | ENSP00000504524.1:n.195-38_195-35del | |
| ENST00000678443.1:c.195-38_195-35del | ENSP00000504006.1:n.195-38_195-35del | |
| ENST00000678512.1:n.347_350del | ||
| ENST00000678622.1:n.240-38_240-35del | ||
| ENST00000678691.1:n.73-38_73-35del | ||
| ENST00000678939.1:c.195-38_195-35del | ENSP00000503404.1:n.195-38_195-35del | |
| ENST00000678988.1:n.1234-38_1234-35del | ||
| ENST00000679053.1:n.240-38_240-35del | ||
| ENST00000679343.1:n.233-38_233-35del | ||
| ENST00000191018.9:c.195-38_195-35del | ENSP00000191018.5:n.195-38_195-35del | |
| ENST00000354880.9:c.249-38_249-35del | ENSP00000346952.4:n.249-38_249-35del | |
| ENST00000372459.6:c.195-38_195-35del | ENSP00000361537.2:n.195-38_195-35del | |
| ENST00000372484.7:c.249-38_249-35del | ENSP00000361562.3:n.249-38_249-35del | |
| ENST00000606066.1:n.240-38_240-35del | ||
| ENST00000606394.5:c.248+116_248+119del | ENSP00000475827.1:n.248+116_248+119del | |
| ENST00000606788.5:c.249-38_249-35del | ENSP00000476235.1:n.249-38_249-35del | |
| ENST00000607212.1:n.333_336del | ||
| ENST00000607482.5:c.195-38_195-35del | ENSP00000475524.1:n.195-38_195-35del | |
| ENST00000607814.5:n.335_338del | ||
| ENST00000607841.5:n.240-38_240-35del | ||
| NM_000308.2:c.249-38_249-35del | NP_000299.2:n.249-38_249-35del | |
| NM_000308.3:c.249-38_249-35del | NP_000299.2:n.249-38_249-35del | |
| NM_001127695.1:c.195-38_195-35del | NP_001121167.1:n.195-38_195-35del | |
| NM_001127695.2:c.195-38_195-35del | NP_001121167.1:n.195-38_195-35del | |
| NM_001167594.1:c.249-38_249-35del | NP_001161066.1:n.249-38_249-35del | |
| NM_001167594.2:c.249-38_249-35del | NP_001161066.1:n.249-38_249-35del | |
| NR_133656.1:n.1431-38_1431-35del | ||
| NM_000308.4:c.195-38_195-35del MANE Select | NP_000299.3:n.195-38_195-35del | |
| NM_001127695.3:c.195-38_195-35del | NP_001121167.1:n.195-38_195-35del | |
| NM_001167594.3:c.195-38_195-35del | NP_001161066.2:n.195-38_195-35del | |
| NR_133656.2:n.240-38_240-35del |