Linked Data
gnomAD v4:
6-24145770-GTGTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24145774_24145777del , CM000668.2:g.24145774_24145777del | GRCh38 |
| NC_000006.11:g.24146002_24146005del , CM000668.1:g.24146002_24146005del | GRCh37 |
| NC_000006.10:g.24253981_24253984del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378491.9:c.416_419del MANE Select | ENSP00000367752.4:p.Phe139Ter | |
| ENST00000378477.2:c.416_419del | ENSP00000367738.2:p.Phe139Ter | |
| ENST00000378478.5:c.416_419del | ENSP00000367739.2:p.Phe139Ter | |
| ENST00000378491.8:c.416_419del | ENSP00000367752.4:p.Phe139Ter | |
| ENST00000468195.2:n.257-8997_257-8994del | ||
| NM_080723.4:c.416_419del | NP_542454.3:p.Phe139Ter | |
| NM_080723.5:c.416_419del MANE Select | NP_542454.3:p.Phe139Ter |