Linked Data
gnomAD v4:
22-50523564-CAGATT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50523566_50523570del , CM000684.2:g.50523566_50523570del | GRCh38 |
| NC_000022.10:g.50961995_50961999del , CM000684.1:g.50961995_50961999del | GRCh37 |
| NC_000022.9:g.49308861_49308865del | NCBI36 |
| NG_016235.1:g.7871_7875del | |
| NG_021419.1:g.20351_20355del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420993.7:c.*191_*195del MANE Select | ENSP00000410088.2:n.*191_*195del | |
| NM_001185011.1:c.*191_*195del | NP_001171940.1:n.*191_*195del | |
| NM_152299.3:c.*191_*195del | NP_689512.2:n.*191_*195del | |
| XR_001755232.1:n.2219_2223del | ||
| NM_152299.4:c.*191_*195del MANE Select | NP_689512.2:n.*191_*195del | |
| NM_001185011.2:c.*191_*195del | NP_001171940.1:n.*191_*195del |