Linked Data
gnomAD v4:
14-100882910-CTCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100882915_100882918del , CM000676.2:g.100882915_100882918del | GRCh38 |
| NC_000014.8:g.101349252_101349255del , CM000676.1:g.101349252_101349255del | GRCh37 |
| NC_000014.7:g.100419005_100419008del | NCBI36 |
| NG_045001.1:g.6934_6937del | |
| NG_045000.5:g.51647_51650del | |
| NG_045000.6:g.51647_51650del | |
| NG_045001.2:g.25809_25812del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.1875_1878del MANE Select | ENSP00000497482.1:p.Arg626ProfsTer14 | |
| ENST00000534062.1:c.1875_1878del | ENSP00000435342.1:p.Arg626ProfsTer14 | |
| NM_001134888.2:c.1875_1878del | NP_001128360.1:p.Arg626ProfsTer14 | |
| NM_001134888.3:c.1875_1878del MANE Select | NP_001128360.1:p.Arg626ProfsTer14 |