Linked Data
gnomAD v4:
10-133373279-CCGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133373280_133373282del , CM000672.2:g.133373280_133373282del | GRCh38 |
| NC_000010.10:g.135186784_135186786del , CM000672.1:g.135186784_135186786del | GRCh37 |
| NC_000010.9:g.135036774_135036776del | NCBI36 |
| NG_042077.1:g.5123_5125del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.52_54del MANE Select | ENSP00000357535.3:p.Pro18del | |
| ENST00000368547.3:c.52_54del | ENSP00000357535.3:p.Pro18del | |
| NM_004092.3:c.52_54del | NP_004083.3:p.Pro18del | |
| XR_002956965.1:n.115_117del | ||
| NM_004092.4:c.52_54del MANE Select | NP_004083.3:p.Pro18del |