Linked Data
gnomAD v4:
16-67436736-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436738_67436739del , CM000678.2:g.67436738_67436739del | GRCh38 |
| NC_000016.9:g.67470641_67470642del , CM000678.1:g.67470641_67470642del | GRCh37 |
| NC_000016.8:g.66028142_66028143del | NCBI36 |
| NG_011482.1:g.49449_49450del | |
| NG_016549.1:g.10606_10607del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.953_954del MANE Select | ENSP00000316786.5:p.Leu318HisfsTer? | |
| ENST00000326152.5:c.953_954del | ENSP00000316786.5:p.Leu318HisfsTer? | |
| NM_000196.3:c.953_954del | NP_000187.3:p.Leu318HisfsTer? | |
| NM_000196.4:c.953_954del MANE Select | NP_000187.3:p.Leu318HisfsTer? |