Linked Data
gnomAD v4:
17-56594974-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594979dup , CM000679.2:g.56594979dup | GRCh38 |
| NC_000017.10:g.54672340dup , CM000679.1:g.54672340dup | GRCh37 |
| NC_000017.9:g.52027339dup | NCBI36 |
| NG_011958.1:g.6281dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.*57dup MANE Select | ENSP00000328181.4:n.*57dup | |
| ENST00000332822.4:c.*57dup | ENSP00000328181.4:n.*57dup | |
| NM_005450.4:c.*57dup | NP_005441.1:n.*57dup | |
| NM_005450.6:c.*57dup MANE Select | NP_005441.1:n.*57dup |