Linked Data
gnomAD v4:
10-94781825-G-GAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781825_94781826insAAAA , CM000672.2:g.94781825_94781826insAAAA | GRCh38 |
| NC_000010.10:g.96541582_96541583insAAAA , CM000672.1:g.96541582_96541583insAAAA | GRCh37 |
| NC_000010.9:g.96531572_96531573insAAAA | NCBI36 |
| NG_008384.2:g.24120_24121insAAAA | |
| NG_008384.3:g.24145_24146insAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.647_648insAAAA MANE Select | ENSP00000360372.3:p.Cys216Ter | |
| ENST00000645461.1:n.1700_1701insAAAA | ||
| ENST00000371321.7:c.647_648insAAAA | ENSP00000360372.3:p.Cys216Ter | |
| ENST00000464755.1:c.1410_1411insAAAA | ENSP00000483243.1:n.1410_1411insAAAA | |
| NM_000769.2:c.647_648insAAAA | NP_000760.1:p.Cys216Ter | |
| NM_000769.4:c.647_648insAAAA MANE Select | NP_000760.1:p.Cys216Ter |