Linked Data
gnomAD v4:
1-63593366-C-CGGCCTAGAGTGCGGCGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63593367_63593383dup , CM000663.2:g.63593367_63593383dup | GRCh38 |
| NC_000001.10:g.64059038_64059054dup , CM000663.1:g.64059038_64059054dup | GRCh37 |
| NC_000001.9:g.63831626_63831642dup | NCBI36 |
| NG_016966.1:g.5092_5108dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.7:c.-122_-106dup (PGM1) | ENSP00000360125.3:n.-122_-106dup | |
| ENST00000478138.1:n.197+142_197+158dup (ITGB3BP) | ||
| NM_002633.2:c.-122_-106dup (PGM1) | NP_002624.2:n.-122_-106dup |