Linked Data
gnomAD v4:
17-8086155-TTTGTGCAGGCGGATGATGATGAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8086156_8086178del , CM000679.2:g.8086156_8086178del | GRCh38 |
| NC_000017.10:g.7989474_7989496del , CM000679.1:g.7989474_7989496del | GRCh37 |
| NC_000017.9:g.7930199_7930221del | NCBI36 |
| NG_007099.1:g.6526_6548del | |
| NG_007099.2:g.6539_6561del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.190_212del MANE Select | ENSP00000497784.1:p.Leu64ArgfsTer? | |
| ENST00000319144.4:c.190_212del | ENSP00000315167.4:p.Leu64ArgfsTer? | |
| NM_001139.2:c.190_212del | NP_001130.1:p.Leu64ArgfsTer? | |
| NM_001139.3:c.190_212del MANE Select | NP_001130.1:p.Leu64ArgfsTer? |