Linked Data
gnomAD v4:
8-38146126-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146129_38146130del , CM000670.2:g.38146129_38146130del | GRCh38 |
| NC_000008.10:g.38003647_38003648del , CM000670.1:g.38003647_38003648del | GRCh37 |
| NC_000008.9:g.38122804_38122805del | NCBI36 |
| NG_011827.1:g.9955_9956del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.485_486del MANE Select | ENSP00000276449.3:p.Lys162ArgfsTer21 | |
| ENST00000276449.8:c.485_486del | ENSP00000276449.3:p.Lys162ArgfsTer21 | |
| ENST00000520114.1:n.972_973del | ||
| ENST00000522050.1:c.421_422del | ||
| NM_000349.2:c.485_486del | NP_000340.2:p.Lys162ArgfsTer21 | |
| XM_006716392.1:c.485_486del | XP_006716455.1:p.Lys162ArgfsTer21 | |
| NM_000349.3:c.485_486del MANE Select | NP_000340.2:p.Lys162ArgfsTer21 |