Linked Data
ClinVar Variation Id:
2896663
ClinVar RCV Id:
RCV003598495
dbSNP Id:
rs1171190560
gnomAD v2:
20-44526757-TG-T
gnomAD v4:
20-45898118-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45898121del , CM000682.2:g.45898121del | GRCh38 |
| NC_000020.10:g.44526760del , CM000682.1:g.44526760del | GRCh37 |
| NC_000020.9:g.43960167del | NCBI36 |
| NG_008291.1:g.12170del | |
| NG_012115.1:g.19029del | |
| NG_012115.2:g.19029del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480961.3:n.5496+12del | ||
| ENST00000484855.4:n.4114+12del | ||
| ENST00000493522.8:n.1726+12del | ||
| ENST00000606066.3:n.1850+12del | ||
| ENST00000606782.3:n.1480+12del | ||
| ENST00000607187.3:n.4283+12del | ||
| ENST00000607212.3:n.1570+12del | ||
| ENST00000607814.7:n.3110+12del | ||
| ENST00000677755.2:n.1779+12del | ||
| ENST00000678622.2:n.2650+12del | ||
| ENST00000678691.2:n.3607+12del | ||
| ENST00000678988.2:n.2737+12del | ||
| ENST00000679053.2:n.4481+12del | ||
| ENST00000679343.2:n.4820+12del | ||
| ENST00000684198.1:n.1974+12del | ||
| ENST00000372459.7:c.1359+12del | ENSP00000361537.2:n.1359+12del | |
| ENST00000372484.8:c.1413+12del | ENSP00000361562.3:n.1413+12del | |
| ENST00000484855.3:n.4114+12del | ||
| ENST00000493522.7:n.1726+12del | ||
| ENST00000606066.2:n.1498+12del | ||
| ENST00000607187.2:n.3797+12del | ||
| ENST00000607212.2:n.1570+12del | ||
| ENST00000607482.6:c.1359+12del | ENSP00000475524.2:n.1359+12del | |
| ENST00000646241.3:c.1359+12del MANE Select | ENSP00000493613.2:n.1359+12del | |
| ENST00000676597.1:c.1198+12del | ENSP00000503904.1:n.1198+12del | |
| ENST00000676967.1:c.*752+12del | ENSP00000502866.1:n.*752+12del | |
| ENST00000677394.1:c.1413+12del | ENSP00000504790.1:n.1413+12del | |
| ENST00000677525.1:c.*1182+12del | ENSP00000504197.1:n.*1182+12del | |
| ENST00000677755.1:n.1779+12del | ||
| ENST00000678025.1:c.*1423+12del | ENSP00000503463.1:n.*1423+12del | |
| ENST00000678078.1:c.*922+12del | ENSP00000502993.1:n.*922+12del | |
| ENST00000678217.1:c.2141+12del | ENSP00000504109.1:n.2141+12del | |
| ENST00000678331.1:c.*77+12del | ENSP00000504524.1:n.*77+12del | |
| ENST00000678443.1:c.1269+12del | ENSP00000504006.1:n.1269+12del | |
| ENST00000678512.1:n.5932del | ||
| ENST00000678622.1:n.2278+12del | ||
| ENST00000678691.1:n.3068+12del | ||
| ENST00000678939.1:c.*698+12del | ENSP00000503404.1:n.*698+12del | |
| ENST00000678988.1:n.2737+12del | ||
| ENST00000679053.1:n.4109+12del | ||
| ENST00000679343.1:n.4441+12del | ||
| ENST00000191018.9:c.1359+12del | ENSP00000191018.5:n.1359+12del | |
| ENST00000354880.9:c.1362+12del | ENSP00000346952.4:n.1362+12del | |
| ENST00000372459.6:c.1359+12del | ENSP00000361537.2:n.1359+12del | |
| ENST00000372484.7:c.1413+12del | ENSP00000361562.3:n.1413+12del | |
| ENST00000484855.2:n.1729+12del | ||
| ENST00000606000.1:n.383+12del | ||
| ENST00000606788.5:c.*724+12del | ENSP00000476235.1:n.*724+12del | |
| NM_000308.2:c.1413+12del | NP_000299.2:n.1413+12del | |
| NM_000308.3:c.1413+12del | NP_000299.2:n.1413+12del | |
| NM_001127695.1:c.1359+12del | NP_001121167.1:n.1359+12del | |
| NM_001127695.2:c.1359+12del | NP_001121167.1:n.1359+12del | |
| NM_001167594.1:c.1362+12del | NP_001161066.1:n.1362+12del | |
| NM_001167594.2:c.1362+12del | NP_001161066.1:n.1362+12del | |
| NR_133656.1:n.2602+12del | ||
| NM_000308.4:c.1359+12del MANE Select | NP_000299.3:n.1359+12del | |
| NM_001127695.3:c.1359+12del | NP_001121167.1:n.1359+12del | |
| NM_001167594.3:c.1308+12del | NP_001161066.2:n.1308+12del | |
| NR_133656.2:n.1411+12del |