Linked Data
gnomAD v4:
10-133366154-CGAGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133366160_133366163del , CM000672.2:g.133366160_133366163del | GRCh38 |
| NC_000010.10:g.135179664_135179667del , CM000672.1:g.135179664_135179667del | GRCh37 |
| NC_000010.9:g.135029654_135029657del | NCBI36 |
| NG_042077.1:g.12247_12250del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.620-63_620-60del MANE Select | ENSP00000357535.3:n.620-63_620-60del | |
| ENST00000368547.3:c.620-63_620-60del | ENSP00000357535.3:n.620-63_620-60del | |
| NM_004092.3:c.620-63_620-60del | NP_004083.3:n.620-63_620-60del | |
| XR_002956965.1:n.1413_1416del | ||
| NM_004092.4:c.620-63_620-60del MANE Select | NP_004083.3:n.620-63_620-60del |