MyVariant.info:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003478 (AFR)
Genomes Max Group AF
0.00003249 (AFR)
Exomes Max Group AF
0.00000995 (AFR)
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352137_133352138del , CM000671.2:g.133352137_133352138del | GRCh38 |
| NC_000009.10:g.135208813_135208814del | NCBI36 |
| NG_008477.1:g.9371_9372del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.758_759del MANE Select | ENSP00000361042.3:p.Thr253SerfsTer? | |
| ENST00000371974.7:c.758_759del | ENSP00000361042.3:p.Thr253SerfsTer? | |
| ENST00000437995.1:n.668_669del | ||
| ENST00000495952.5:n.748_749del | ||
| ENST00000615505.4:c.431_432del | ENSP00000482067.1:p.Thr144SerfsTer? | |
| NM_001280787.1:c.431_432del | NP_001267716.1:p.Thr144SerfsTer? | |
| NM_003172.3:c.758_759del | NP_003163.1:p.Thr253SerfsTer? | |
| XM_011518942.1:c.431_432del | XP_011517244.1:p.Thr144SerfsTer? | |
| NM_003172.4:c.758_759del MANE Select | NP_003163.1:p.Thr253SerfsTer? |