Linked Data
gnomAD v4:
4-24799678-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24799681del , CM000666.2:g.24799681del | GRCh38 |
| NC_000004.11:g.24801303del , CM000666.1:g.24801303del | GRCh37 |
| NC_000004.10:g.24410401del | NCBI36 |
| NG_012213.1:g.9219del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.160del MANE Select | ENSP00000371554.3:p.Asp54ThrfsTer25 | |
| ENST00000382120.3:c.160del | ENSP00000371554.3:p.Asp54ThrfsTer25 | |
| ENST00000598411.1:c.160del | ENSP00000472134.1:p.Asp54= | |
| NM_003102.2:c.160del | NP_003093.2:p.Asp54ThrfsTer25 | |
| XR_427488.1:n.350del | ||
| NM_003102.3:c.160del | NP_003093.2:p.Asp54ThrfsTer25 | |
| NM_003102.4:c.160del MANE Select | NP_003093.2:p.Asp54ThrfsTer25 |