Linked Data
gnomAD v4:
6-131851109-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131851111_131851112del , CM000668.2:g.131851111_131851112del | GRCh38 |
| NC_000006.11:g.132172251_132172252del , CM000668.1:g.132172251_132172252del | GRCh37 |
| NC_000006.10:g.132213944_132213945del | NCBI36 |
| NG_008206.1:g.48096_48097del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.431-31_431-30del MANE Select | ENSP00000498074.1:n.431-31_431-30del | |
| ENST00000650147.1:c.109-31_109-30del | ||
| ENST00000650437.1:c.108+1005_108+1006del | ||
| ENST00000360971.6:c.431-31_431-30del | ENSP00000354238.2:n.431-31_431-30del | |
| ENST00000486853.1:n.451-31_451-30del | ||
| ENST00000513998.5:c.431-31_431-30del | ENSP00000422424.1:n.431-31_431-30del | |
| NM_006208.2:c.431-31_431-30del | NP_006199.2:n.431-31_431-30del | |
| NM_006208.3:c.431-31_431-30del MANE Select | NP_006199.2:n.431-31_431-30del |