Linked Data
gnomAD v4:
4-4862677-C-CTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862681_4862686dup , CM000666.2:g.4862681_4862686dup | GRCh38 |
| NC_000004.11:g.4864408_4864413dup , CM000666.1:g.4864408_4864413dup | GRCh37 |
| NC_000004.10:g.4915309_4915314dup | NCBI36 |
| NG_008121.1:g.8017_8022dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.470-20_470-15dup MANE Select | ENSP00000372170.4:n.470-20_470-15dup | |
| ENST00000382723.4:c.470-20_470-15dup | ENSP00000372170.4:n.470-20_470-15dup | |
| ENST00000468421.1:n.182-20_182-15dup | ||
| NM_002448.3:c.470-20_470-15dup MANE Select | NP_002439.2:n.470-20_470-15dup |