Linked Data
gnomAD v4:
11-64753543-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64753545del , CM000673.2:g.64753545del | GRCh38 |
| NC_000011.9:g.64521017del , CM000673.1:g.64521017del | GRCh37 |
| NC_000011.8:g.64277593del | NCBI36 |
| NG_013018.1:g.12172del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1378del MANE Select | ENSP00000164139.3:p.His460ThrfsTer? | |
| ENST00000164139.3:c.1378del | ENSP00000164139.3:p.His460ThrfsTer? | |
| ENST00000377432.7:c.1114del | ENSP00000366650.3:p.His372ThrfsTer? | |
| NM_001164716.1:c.1114del | NP_001158188.1:p.His372ThrfsTer? | |
| NM_005609.2:c.1378del | NP_005600.1:p.His460ThrfsTer? | |
| NM_005609.3:c.1378del | NP_005600.1:p.His460ThrfsTer? | |
| NM_005609.4:c.1378del MANE Select | NP_005600.1:p.His460ThrfsTer? |