Linked Data
gnomAD v4:
13-20189312-TAGGAGCGCTGGCGTGGACACGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189315_20189336del , CM000675.2:g.20189315_20189336del | GRCh38 |
| NC_000013.10:g.20763454_20763475del , CM000675.1:g.20763454_20763475del | GRCh37 |
| NC_000013.9:g.19661454_19661475del | NCBI36 |
| NG_008358.1:g.8642_8663del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.248_269del | ENSP00000372295.1:p.Phe83Ter | |
| ENST00000382848.5:c.248_269del MANE Select | ENSP00000372299.4:p.Phe83Ter | |
| ENST00000382844.1:c.248_269del | ENSP00000372295.1:p.Phe83Ter | |
| ENST00000382848.4:c.248_269del | ENSP00000372299.4:p.Phe83Ter | |
| NM_004004.5:c.248_269del | NP_003995.2:p.Phe83Ter | |
| XM_011535049.1:c.248_269del | XP_011533351.1:p.Phe83Ter | |
| XM_011535049.2:c.248_269del | XP_011533351.1:p.Phe83Ter | |
| NM_004004.6:c.248_269del MANE Select | NP_003995.2:p.Phe83Ter |