Linked Data
gnomAD v4:
10-94850195-GTTTTCTCCGCTGGTGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94850197_94850212del , CM000672.2:g.94850197_94850212del | GRCh38 |
| NC_000010.10:g.96609954_96609969del , CM000672.1:g.96609954_96609969del | GRCh37 |
| NC_000010.9:g.96599944_96599959del | NCBI36 |
| NG_008384.2:g.92492_92507del | |
| NG_008384.3:g.92517_92532del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1291+139_1291+154del MANE Select | ENSP00000360372.3:n.1291+139_1291+154del | |
| ENST00000645461.1:n.2202+139_2202+154del | ||
| ENST00000371321.7:c.1291+139_1291+154del | ENSP00000360372.3:n.1291+139_1291+154del | |
| ENST00000464755.1:c.2054+139_2054+154del | ENSP00000483243.1:n.2054+139_2054+154del | |
| NM_000769.2:c.1291+139_1291+154del | NP_000760.1:n.1291+139_1291+154del | |
| NM_000769.4:c.1291+139_1291+154del MANE Select | NP_000760.1:n.1291+139_1291+154del |