Linked Data
gnomAD v4:
20-10658450-GCACA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658461_10658464del , CM000682.2:g.10658461_10658464del | GRCh38 |
| NC_000020.10:g.10639109_10639112del , CM000682.1:g.10639109_10639112del | GRCh37 |
| NC_000020.9:g.10587109_10587112del | NCBI36 |
| NG_007496.1:g.20593_20596del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.694+14_694+17del MANE Select | ENSP00000254958.4:n.694+14_694+17del | |
| ENST00000254958.9:c.694+14_694+17del | ENSP00000254958.4:n.694+14_694+17del | |
| ENST00000423891.6:n.560+14_560+17del | ||
| NM_000214.2:c.694+14_694+17del | NP_000205.1:n.694+14_694+17del | |
| NM_000214.3:c.694+14_694+17del MANE Select | NP_000205.1:n.694+14_694+17del |