Linked Data
gnomAD v4:
15-66703291-GCGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66703293_66703295del , CM000677.2:g.66703293_66703295del | GRCh38 |
| NC_000015.9:g.66995631_66995633del , CM000677.1:g.66995631_66995633del | GRCh37 |
| NC_000015.8:g.64782685_64782687del | NCBI36 |
| NG_012244.1:g.5958_5960del | |
| NG_012244.2:g.5958_5960del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.35_37del MANE Select | ENSP00000288840.5:p.Arg12del | |
| ENST00000288840.9:c.35_37del | ENSP00000288840.5:p.Arg12del | |
| ENST00000557916.5:c.35_37del | ENSP00000452955.1:p.Arg12del | |
| ENST00000612349.1:n.217_219del | ||
| NM_005585.4:c.35_37del | NP_005576.3:p.Arg12del | |
| NR_027654.1:n.958_960del | ||
| XR_931825.1:n.1194_1196del | ||
| XR_931826.1:n.1194_1196del | ||
| XR_931827.1:n.1194_1196del | ||
| XR_931827.2:n.1184_1186del | ||
| NM_005585.5:c.35_37del MANE Select | NP_005576.3:p.Arg12del | |
| NR_027654.2:n.1058_1060del |