Linked Data
ClinVar Variation Id:
1183023
ClinVar RCV Id:
RCV001540780
dbSNP Id:
rs60451416
gnomAD v2:
13-20803454-ATTTT-A
gnomAD v3:
13-20229315-ATTTT-A
gnomAD v4:
13-20229315-ATTTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20229343_20229346del , CM000675.2:g.20229343_20229346del | GRCh38 |
| NC_000013.10:g.20803482_20803485del , CM000675.1:g.20803482_20803485del | GRCh37 |
| NC_000013.9:g.19701482_19701485del | NCBI36 |
| NG_008323.1:g.8077_8080del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241124.11:c.-16+261_-16+264del | ENSP00000241124.6:n.-16+261_-16+264del | |
| ENST00000400066.8:c.-16+261_-16+264del | ENSP00000382939.3:n.-16+261_-16+264del | |
| ENST00000642251.1:c.-16+261_-16+264del | ENSP00000495437.1:n.-16+261_-16+264del | |
| ENST00000643121.1:c.-16+261_-16+264del | ENSP00000494468.1:n.-16+261_-16+264del | |
| ENST00000643211.1:c.-16+261_-16+264del | ENSP00000495841.1:n.-16+261_-16+264del | |
| ENST00000644236.1:c.-16+261_-16+264del | ENSP00000494122.1:n.-16+261_-16+264del | |
| ENST00000644283.1:c.-16+261_-16+264del | ENSP00000495320.1:n.-16+261_-16+264del | |
| ENST00000644667.1:c.-16+261_-16+264del | ENSP00000493621.1:n.-16+261_-16+264del | |
| ENST00000645654.1:c.-16+261_-16+264del | ENSP00000494720.1:n.-16+261_-16+264del | |
| ENST00000646108.1:c.-16+261_-16+264del | ENSP00000493512.1:n.-16+261_-16+264del | |
| ENST00000647029.1:c.-16+261_-16+264del MANE Select | ENSP00000493834.1:n.-16+261_-16+264del | |
| ENST00000647243.1:c.-16+261_-16+264del | ENSP00000494733.1:n.-16+261_-16+264del | |
| ENST00000241124.10:c.-16+261_-16+264del | ENSP00000241124.6:n.-16+261_-16+264del | |
| ENST00000356192.6:c.-16+261_-16+264del | ENSP00000348521.6:n.-16+261_-16+264del | |
| ENST00000400065.7:c.-16+261_-16+264del | ENSP00000382938.3:n.-16+261_-16+264del | |
| ENST00000400066.7:c.-16+261_-16+264del | ENSP00000382939.3:n.-16+261_-16+264del | |
| NM_001110219.2:c.-16+261_-16+264del | NP_001103689.1:n.-16+261_-16+264del | |
| NM_001110220.2:c.-16+261_-16+264del | NP_001103690.1:n.-16+261_-16+264del | |
| NM_001110221.2:c.-16+261_-16+264del | NP_001103691.1:n.-16+261_-16+264del | |
| NM_006783.4:c.-16+261_-16+264del | NP_006774.2:n.-16+261_-16+264del | |
| NM_001110219.3:c.-16+261_-16+264del MANE Select | NP_001103689.1:n.-16+261_-16+264del | |
| NM_001370090.1:c.-16+261_-16+264del | NP_001357019.1:n.-16+261_-16+264del | |
| NM_001370091.1:c.-16+261_-16+264del | NP_001357020.1:n.-16+261_-16+264del | |
| NM_001370092.1:c.-16+261_-16+264del | NP_001357021.1:n.-16+261_-16+264del | |
| NM_001110220.3:c.-16+261_-16+264del | NP_001103690.1:n.-16+261_-16+264del | |
| NM_001110221.3:c.-16+261_-16+264del | NP_001103691.1:n.-16+261_-16+264del | |
| NM_006783.5:c.-16+261_-16+264del | NP_006774.2:n.-16+261_-16+264del |