gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13884672dup , CM000680.2:g.13884672dup | GRCh38 |
| NC_000018.9:g.13884671dup , CM000680.1:g.13884671dup | GRCh37 |
| NC_000018.8:g.13874671dup | NCBI36 |
| NG_011819.1:g.35865dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327606.4:c.847dup MANE Select | ENSP00000333821.2:p.Leu283ProfsTer? | |
| ENST00000327606.3:c.847dup | ENSP00000333821.2:p.Leu283ProfsTer? | |
| NM_000529.2:c.847dup MANE Select | NP_000520.1:p.Leu283ProfsTer? | |
| NM_001291911.1:c.847dup | NP_001278840.1:p.Leu283ProfsTer? | |
| XM_017025781.1:c.847dup | XP_016881270.1:p.Leu283ProfsTer? |