ClinGen Evidence Repository:
Classification
Pathogenic
COSMIC:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006235 (AFR)
Genomes Max Group AF
0.00004739 (AFR)
Exomes Max Group AF
0.00003983 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399000del , CM000681.2:g.1399000del | GRCh38 |
| NC_000019.9:g.1398999del , CM000681.1:g.1398999del | GRCh37 |
| NC_000019.8:g.1349999del | NCBI36 |
| NG_009785.1:g.7559del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.491del MANE Select | ENSP00000252288.1:p.Gly164AlafsTer14 | |
| ENST00000447102.8:c.491del | ENSP00000403536.2:p.Gly164AlafsTer14 | |
| ENST00000591788.3:c.174del | ||
| ENST00000640164.1:n.324del | ||
| ENST00000640762.1:c.422del | ENSP00000492031.1:p.Gly141AlafsTer14 | |
| ENST00000252288.6:c.491del | ENSP00000252288.1:p.Gly164AlafsTer14 | |
| ENST00000447102.7:c.491del | ENSP00000403536.2:p.Gly164AlafsTer14 | |
| ENST00000591788.2:c.176del | ENSP00000466341.2:p.Gly59AlafsTer14 | |
| NM_000156.5:c.491del | NP_000147.1:p.Gly164AlafsTer14 | |
| NM_138924.2:c.491del | NP_620279.1:p.Gly164AlafsTer14 | |
| NM_000156.6:c.491del MANE Select | NP_000147.1:p.Gly164AlafsTer14 | |
| NM_138924.3:c.491del | NP_620279.1:p.Gly164AlafsTer14 |