Linked Data
gnomAD v4:
5-148827400-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827401del , CM000667.2:g.148827401del | GRCh38 |
| NC_000005.9:g.148206964del , CM000667.1:g.148206964del | GRCh37 |
| NC_000005.8:g.148187157del | NCBI36 |
| NG_016421.1:g.5809del | |
| NG_016421.2:g.5809del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.570del MANE Select | ENSP00000305372.4:p.Cys191ValfsTer23 | |
| ENST00000305988.5:c.570del | ENSP00000305372.4:p.Cys191ValfsTer23 | |
| NM_000024.5:c.570del | NP_000015.1:p.Cys191ValfsTer23 | |
| NM_000024.6:c.570del MANE Select | NP_000015.2:p.Cys191ValfsTer23 |