Linked Data
gnomAD v4:
1-192811966-C-CTGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192811966_192811967insTGGG , CM000663.2:g.192811966_192811967insTGGG | GRCh38 |
| NC_000001.10:g.192781096_192781097insTGGG , CM000663.1:g.192781096_192781097insTGGG | GRCh37 |
| NC_000001.9:g.191047719_191047720insTGGG | NCBI36 |
| NG_012800.1:g.7928_7929insTGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*370_*371insTGGG MANE Select | ENSP00000235382.5:n.*370_*371insTGGG | |
| ENST00000235382.6:c.*370_*371insTGGG | ENSP00000235382.5:n.*370_*371insTGGG | |
| NM_002923.3:c.*370_*371insTGGG | NP_002914.1:n.*370_*371insTGGG | |
| NM_002923.4:c.*370_*371insTGGG MANE Select | NP_002914.1:n.*370_*371insTGGG |