Linked Data
gnomAD v4:
15-97960875-CTGGGTGCGCGGCGGCCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.97960883_97960899del , CM000677.2:g.97960883_97960899del | GRCh38 |
| NC_000015.9:g.98504113_98504129del , CM000677.1:g.98504113_98504129del | GRCh37 |
| NC_000015.8:g.96305117_96305133del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268042.7:c.22_38del MANE Select | ENSP00000268042.6:p.Ala8ArgfsTer? | |
| ENST00000268042.6:c.22_38del | ENSP00000268042.6:p.Ala8ArgfsTer? | |
| NM_183376.2:c.22_38del | NP_899232.2:p.Ala8ArgfsTer? | |
| NM_183376.3:c.22_38del MANE Select | NP_899232.2:p.Ala8ArgfsTer? |