Linked Data
gnomAD v4:
20-10658866-C-CCCTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658869_10658872dup , CM000682.2:g.10658869_10658872dup | GRCh38 |
| NC_000020.10:g.10639517_10639520dup , CM000682.1:g.10639517_10639520dup | GRCh37 |
| NC_000020.9:g.10587517_10587520dup | NCBI36 |
| NG_007496.1:g.20177_20180dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.440-148_440-145dup MANE Select | ENSP00000254958.4:n.440-148_440-145dup | |
| ENST00000254958.9:c.440-148_440-145dup | ENSP00000254958.4:n.440-148_440-145dup | |
| ENST00000423891.6:n.306-148_306-145dup | ||
| NM_000214.2:c.440-148_440-145dup | NP_000205.1:n.440-148_440-145dup | |
| NM_000214.3:c.440-148_440-145dup MANE Select | NP_000205.1:n.440-148_440-145dup |