Linked Data
dbSNP Id:
rs2029942450
gnomAD v3:
10-67917031-ATTGAATGG-A
gnomAD v4:
10-67917031-ATTGAATGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67917034_67917041del , CM000672.2:g.67917034_67917041del | GRCh38 |
| NC_000010.10:g.69676791_69676798del , CM000672.1:g.69676791_69676798del | GRCh37 |
| NC_000010.9:g.69346797_69346804del | NCBI36 |
| NG_050664.1:g.37373_37380del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000212015.11:c.*441_*448del MANE Select | ENSP00000212015.6:n.*441_*448del | |
| ENST00000212015.10:c.*441_*448del | ENSP00000212015.6:n.*441_*448del | |
| ENST00000403579.1:c.*441_*448del | ENSP00000384063.1:n.*441_*448del | |
| ENST00000406900.5:c.*441_*448del | ENSP00000384508.1:n.*441_*448del | |
| ENST00000432464.5:c.*441_*448del | ENSP00000409208.1:n.*441_*448del | |
| NM_001142498.1:c.*441_*448del | NP_001135970.1:n.*441_*448del | |
| NM_001314049.1:c.*441_*448del | NP_001300978.1:n.*441_*448del | |
| NM_012238.4:c.*441_*448del | NP_036370.2:n.*441_*448del | |
| XM_006717737.2:c.*441_*448del | XP_006717800.1:n.*441_*448del | |
| XM_011539561.1:c.*441_*448del | XP_011537863.1:n.*441_*448del | |
| NM_012238.5:c.*441_*448del MANE Select | NP_036370.2:n.*441_*448del | |
| NM_001142498.2:c.*441_*448del | NP_001135970.1:n.*441_*448del |