Linked Data
ClinVar Variation Id:
2959817
ClinVar RCV Id:
RCV003811992
dbSNP Id:
rs1986972338
gnomAD v4:
20-45891897-GCCCTGACC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45891901_45891908del , CM000682.2:g.45891901_45891908del | GRCh38 |
| NC_000020.10:g.44520540_44520547del , CM000682.1:g.44520540_44520547del | GRCh37 |
| NC_000020.9:g.43953947_43953954del | NCBI36 |
| NG_008291.1:g.5950_5957del | |
| NG_033108.1:g.4383_4390del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480961.3:n.612-15_612-8del | ||
| ENST00000484855.4:n.245-15_245-8del | ||
| ENST00000493522.8:n.223-15_223-8del | ||
| ENST00000606066.3:n.612-15_612-8del | ||
| ENST00000606782.3:n.56_63del | ||
| ENST00000607187.3:n.612-15_612-8del | ||
| ENST00000607212.3:n.391_398del | ||
| ENST00000607814.7:n.357_364del | ||
| ENST00000677755.2:n.281_288del | ||
| ENST00000678622.2:n.612-15_612-8del | ||
| ENST00000678691.2:n.612-15_612-8del | ||
| ENST00000678988.2:n.1234-15_1234-8del | ||
| ENST00000679053.2:n.612-15_612-8del | ||
| ENST00000679343.2:n.612-15_612-8del | ||
| ENST00000684198.1:n.612-15_612-8del | ||
| ENST00000372459.7:c.195-15_195-8del | ENSP00000361537.2:n.195-15_195-8del | |
| ENST00000372484.8:c.249-15_249-8del | ENSP00000361562.3:n.249-15_249-8del | |
| ENST00000419493.3:c.195-15_195-8del | ENSP00000408533.3:n.195-15_195-8del | |
| ENST00000480961.2:n.222-15_222-8del | ||
| ENST00000484855.3:n.245-15_245-8del | ||
| ENST00000493522.7:n.223-15_223-8del | ||
| ENST00000606066.2:n.260-15_260-8del | ||
| ENST00000606394.6:c.248+139_248+146del | ENSP00000475827.1:n.248+139_248+146del | |
| ENST00000606782.2:n.56_63del | ||
| ENST00000607187.2:n.126-15_126-8del | ||
| ENST00000607212.2:n.391_398del | ||
| ENST00000607482.6:c.195-15_195-8del | ENSP00000475524.2:n.195-15_195-8del | |
| ENST00000607814.6:n.357_364del | ||
| ENST00000646241.3:c.195-15_195-8del MANE Select | ENSP00000493613.2:n.195-15_195-8del | |
| ENST00000676526.1:c.249-15_249-8del | ENSP00000504209.1:n.249-15_249-8del | |
| ENST00000676597.1:c.195-15_195-8del | ENSP00000503904.1:n.195-15_195-8del | |
| ENST00000676657.1:c.195-15_195-8del | ENSP00000504158.1:n.195-15_195-8del | |
| ENST00000676967.1:c.195-15_195-8del | ENSP00000502866.1:n.195-15_195-8del | |
| ENST00000677394.1:c.249-15_249-8del | ENSP00000504790.1:n.249-15_249-8del | |
| ENST00000677525.1:c.*18-15_*18-8del | ENSP00000504197.1:n.*18-15_*18-8del | |
| ENST00000677755.1:n.281_288del | ||
| ENST00000678025.1:c.195-15_195-8del | ENSP00000503463.1:n.195-15_195-8del | |
| ENST00000678078.1:c.249-15_249-8del | ENSP00000502993.1:n.249-15_249-8del | |
| ENST00000678217.1:c.195-15_195-8del | ENSP00000504109.1:n.195-15_195-8del | |
| ENST00000678331.1:c.195-15_195-8del | ENSP00000504524.1:n.195-15_195-8del | |
| ENST00000678443.1:c.195-15_195-8del | ENSP00000504006.1:n.195-15_195-8del | |
| ENST00000678512.1:n.370_377del | ||
| ENST00000678622.1:n.240-15_240-8del | ||
| ENST00000678691.1:n.73-15_73-8del | ||
| ENST00000678939.1:c.195-15_195-8del | ENSP00000503404.1:n.195-15_195-8del | |
| ENST00000678988.1:n.1234-15_1234-8del | ||
| ENST00000679053.1:n.240-15_240-8del | ||
| ENST00000679343.1:n.233-15_233-8del | ||
| ENST00000191018.9:c.195-15_195-8del | ENSP00000191018.5:n.195-15_195-8del | |
| ENST00000354880.9:c.249-15_249-8del | ENSP00000346952.4:n.249-15_249-8del | |
| ENST00000372459.6:c.195-15_195-8del | ENSP00000361537.2:n.195-15_195-8del | |
| ENST00000372484.7:c.249-15_249-8del | ENSP00000361562.3:n.249-15_249-8del | |
| ENST00000606066.1:n.240-15_240-8del | ||
| ENST00000606394.5:c.248+139_248+146del | ENSP00000475827.1:n.248+139_248+146del | |
| ENST00000606788.5:c.249-15_249-8del | ENSP00000476235.1:n.249-15_249-8del | |
| ENST00000607212.1:n.356_363del | ||
| ENST00000607482.5:c.195-15_195-8del | ENSP00000475524.1:n.195-15_195-8del | |
| ENST00000607814.5:n.358_365del | ||
| ENST00000607841.5:n.240-15_240-8del | ||
| NM_000308.2:c.249-15_249-8del | NP_000299.2:n.249-15_249-8del | |
| NM_000308.3:c.249-15_249-8del | NP_000299.2:n.249-15_249-8del | |
| NM_001127695.1:c.195-15_195-8del | NP_001121167.1:n.195-15_195-8del | |
| NM_001127695.2:c.195-15_195-8del | NP_001121167.1:n.195-15_195-8del | |
| NM_001167594.1:c.249-15_249-8del | NP_001161066.1:n.249-15_249-8del | |
| NM_001167594.2:c.249-15_249-8del | NP_001161066.1:n.249-15_249-8del | |
| NR_133656.1:n.1431-15_1431-8del | ||
| NM_000308.4:c.195-15_195-8del MANE Select | NP_000299.3:n.195-15_195-8del | |
| NM_001127695.3:c.195-15_195-8del | NP_001121167.1:n.195-15_195-8del | |
| NM_001167594.3:c.195-15_195-8del | NP_001161066.2:n.195-15_195-8del | |
| NR_133656.2:n.240-15_240-8del |