Linked Data
ClinVar Variation Id:
2958141
ClinVar RCV Id:
RCV003814389
gnomAD v4:
12-57763702-TG-T
COSMIC:
COSM268974
MyVariant Identifiers:
chr12:g.58157486del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763708del , CM000674.2:g.57763708del | GRCh38 |
| NC_000012.11:g.58157491del , CM000674.1:g.58157491del | GRCh37 |
| NC_000012.10:g.56443758del | NCBI36 |
| NG_007076.1:g.8491del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1402del | ENSP00000518840.1:p.His468ThrfsTer? | |
| ENST00000713545.1:c.*326del | ENSP00000518841.1:n.*326del | |
| ENST00000228606.9:c.1321del MANE Select | ENSP00000228606.4:p.His441ThrfsTer? | |
| ENST00000228606.8:c.1321del | ENSP00000228606.4:p.His441ThrfsTer? | |
| ENST00000547344.5:n.1460del | ||
| NM_000785.3:c.1321del | NP_000776.1:p.His441ThrfsTer? | |
| NM_000785.4:c.1321del MANE Select | NP_000776.1:p.His441ThrfsTer? |