Linked Data
gnomAD v4:
20-44651887-CCCGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44651891_44651894del , CM000682.2:g.44651891_44651894del | GRCh38 |
| NC_000020.10:g.43280532_43280535del , CM000682.1:g.43280532_43280535del | GRCh37 |
| NC_000020.9:g.42713946_42713949del | NCBI36 |
| NG_007385.1:g.4845_4848del , LRG_16:g.4845_4848del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000536076.2:c.-121+11_-121+14del | ENSP00000512234.1:n.-121+11_-121+14del | |
| ENST00000696039.1:n.321+11_321+14del | ||
| ENST00000696062.1:c.96+209_96+212del | ENSP00000512365.1:n.96+209_96+212del | |
| ENST00000696064.1:c.-118+11_-118+14del | ENSP00000512367.1:n.-118+11_-118+14del | |
| ENST00000696065.1:c.-121+11_-121+14del | ENSP00000512368.1:n.-121+11_-121+14del | |
| ENST00000535573.1:n.332+11_332+14del | ||
| ENST00000536076.1:n.213+11_213+14del | ||
| XM_011528479.1:c.-257+11_-257+14del | XP_011526781.1:n.-257+11_-257+14del |