MyVariant.info:
gnomAD v4:
Joint Max Group AF
0.00000368 (SAS)
Exomes Max Group AF
0.00000388 (SAS)
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352096_133352097del , CM000671.2:g.133352096_133352097del | GRCh38 |
| NC_000009.10:g.135208772_135208773del | NCBI36 |
| NG_008477.1:g.9412_9413del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.799_800del MANE Select | ENSP00000361042.3:p.Leu267GlufsTer24 | |
| ENST00000371974.7:c.799_800del | ENSP00000361042.3:p.Leu267GlufsTer24 | |
| ENST00000437995.1:n.709_710del | ||
| ENST00000495952.5:n.789_790del | ||
| ENST00000615505.4:c.472_473del | ENSP00000482067.1:p.Leu158GlufsTer24 | |
| NM_001280787.1:c.472_473del | NP_001267716.1:p.Leu158GlufsTer24 | |
| NM_003172.3:c.799_800del | NP_003163.1:p.Leu267GlufsTer24 | |
| XM_011518942.1:c.472_473del | XP_011517244.1:p.Leu158GlufsTer24 | |
| NM_003172.4:c.799_800del MANE Select | NP_003163.1:p.Leu267GlufsTer24 |