Linked Data
gnomAD v4:
1-63593449-CCAAGTCCGCCGCTCTGACCCCCGGCAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63593456_63593482del , CM000663.2:g.63593456_63593482del | GRCh38 |
| NC_000001.10:g.64059127_64059153del , CM000663.1:g.64059127_64059153del | GRCh37 |
| NC_000001.9:g.63831715_63831741del | NCBI36 |
| NG_016966.1:g.5181_5207del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.-33_-7del (PGM1) MANE Select | ENSP00000360125.3:n.-33_-7del | |
| ENST00000650546.1:c.-33_-7del (PGM1) | ENSP00000497812.1:n.-33_-7del | |
| ENST00000371084.7:c.-33_-7del (PGM1) | ENSP00000360125.3:n.-33_-7del | |
| ENST00000478138.1:n.197+49_197+75del (ITGB3BP) | ||
| NM_002633.2:c.-33_-7del (PGM1) | NP_002624.2:n.-33_-7del | |
| NM_002633.3:c.-33_-7del (PGM1) MANE Select | NP_002624.2:n.-33_-7del |