gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00006629 (AMR)
Exomes Max Group AF
0.00008889 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12896417del , CM000681.2:g.12896417del | GRCh38 |
| NC_000019.9:g.13007231del , CM000681.1:g.13007231del | GRCh37 |
| NC_000019.8:g.12868231del | NCBI36 |
| NG_009292.1:g.10258del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.848del MANE Select | ENSP00000222214.4:p.Leu283ArgfsTer8 | |
| ENST00000222214.9:c.848del | ENSP00000222214.4:p.Leu283ArgfsTer8 | |
| ENST00000421816.6:n.826del | ||
| ENST00000585420.5:n.1178del | ||
| ENST00000590530.5:c.*288del | ENSP00000468452.1:n.*288del | |
| ENST00000591043.1:n.884del | ||
| ENST00000591470.5:c.848del | ENSP00000466845.1:p.Leu283ArgfsTer8 | |
| NM_000159.3:c.848del | NP_000150.1:p.Leu283ArgfsTer8 | |
| NM_013976.3:c.848del | NP_039663.1:p.Leu283ArgfsTer8 | |
| NR_102316.1:n.1011del | ||
| NR_102317.1:n.1229del | ||
| XM_006722721.2:c.848del | XP_006722784.1:p.Leu283ArgfsTer8 | |
| XM_011527899.1:c.848del | XP_011526201.1:p.Leu283ArgfsTer8 | |
| XM_011527900.1:c.848del | XP_011526202.1:p.Leu283ArgfsTer8 | |
| XM_011527899.2:c.848del | XP_011526201.1:p.Leu283ArgfsTer8 | |
| XM_011527900.2:c.848del | XP_011526202.1:p.Leu283ArgfsTer8 | |
| XM_017026580.1:c.848del | XP_016882069.1:p.Leu283ArgfsTer8 | |
| NM_000159.4:c.848del MANE Select | NP_000150.1:p.Leu283ArgfsTer8 | |
| NM_013976.4:c.848del | NP_039663.1:p.Leu283ArgfsTer8 | |
| NM_013976.5:c.848del | NP_039663.1:p.Leu283ArgfsTer8 |