gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49482760dup , CM000672.2:g.49482760dup | GRCh38 |
| NC_000010.10:g.50690806dup , CM000672.1:g.50690806dup | GRCh37 |
| NC_000010.9:g.50360812dup | NCBI36 |
| NG_009442.1:g.61342dup , LRG_465:g.61342dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.2096dup MANE Select | ENSP00000348089.5:p.Leu700ValfsTer? | |
| ENST00000681632.1:n.2174dup | ||
| ENST00000681659.1:c.1937dup | ENSP00000505631.1:p.Leu647ValfsTer? | |
| ENST00000355832.9:c.2096dup | ENSP00000348089.5:p.Leu700ValfsTer? | |
| ENST00000623073.3:c.*488dup | ENSP00000485650.1:n.*488dup | |
| ENST00000623115.3:c.206dup | ENSP00000485321.1:p.Leu70ValfsTer? | |
| NM_000124.3:c.2096dup | NP_000115.1:p.Leu700ValfsTer? | |
| NM_001346440.1:c.2096dup | NP_001333369.1:p.Leu700ValfsTer? | |
| NM_000124.4:c.2096dup MANE Select | NP_000115.1:p.Leu700ValfsTer? | |
| NM_001346440.2:c.2096dup | NP_001333369.1:p.Leu700ValfsTer? |