Linked Data
gnomAD v4:
1-1535717-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535719_1535720del , CM000663.2:g.1535719_1535720del | GRCh38 |
| NC_000001.10:g.1471099_1471100del , CM000663.1:g.1471099_1471100del | GRCh37 |
| NC_000001.9:g.1460962_1460963del | NCBI36 |
| NG_041807.1:g.9642_9643del | |
| NG_053035.1:g.28577_28578del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.243_244del MANE Select | ENSP00000368007.4:p.Asp81GlufsTer? | |
| ENST00000378733.8:c.243_244del | ENSP00000368007.4:p.Asp81GlufsTer? | |
| ENST00000425828.1:c.243_244del | ENSP00000400311.1:p.Asp81GlufsTer? | |
| NM_001114748.1:c.243_244del | NP_001108220.1:p.Asp81GlufsTer? | |
| NM_001114748.2:c.243_244del MANE Select | NP_001108220.1:p.Asp81GlufsTer? |