Linked Data
gnomAD v4:
20-10658450-G-GCACA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658461_10658464dup , CM000682.2:g.10658461_10658464dup | GRCh38 |
| NC_000020.10:g.10639109_10639112dup , CM000682.1:g.10639109_10639112dup | GRCh37 |
| NC_000020.9:g.10587109_10587112dup | NCBI36 |
| NG_007496.1:g.20593_20596dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.694+14_694+17dup MANE Select | ENSP00000254958.4:n.694+14_694+17dup | |
| ENST00000254958.9:c.694+14_694+17dup | ENSP00000254958.4:n.694+14_694+17dup | |
| ENST00000423891.6:n.560+14_560+17dup | ||
| NM_000214.2:c.694+14_694+17dup | NP_000205.1:n.694+14_694+17dup | |
| NM_000214.3:c.694+14_694+17dup MANE Select | NP_000205.1:n.694+14_694+17dup |