gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001803 (NFE)
Exomes Max Group AF
0.00001914 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43253550del , CM000677.2:g.43253550del | GRCh38 |
| NC_000015.9:g.43545748del , CM000677.1:g.43545748del | GRCh37 |
| NC_000015.8:g.41333040del | NCBI36 |
| NG_016124.1:g.18308del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220420.10:c.640del MANE Select | ENSP00000220420.5:p.Leu214CysfsTer15 | |
| ENST00000635871.1:n.109del | ||
| ENST00000220420.9:c.640del | ENSP00000220420.5:p.Leu214CysfsTer15 | |
| ENST00000349114.8:c.394del | ENSP00000220419.8:p.Leu132CysfsTer15 | |
| ENST00000610827.4:c.637del | ENSP00000479732.1:p.Leu213CysfsTer15 | |
| ENST00000611276.4:c.391del | ENSP00000482542.1:p.Leu131CysfsTer15 | |
| ENST00000622115.1:c.643del | ENSP00000479638.1:p.Leu215CysfsTer15 | |
| NM_004245.3:c.394del | NP_004236.1:p.Leu132CysfsTer15 | |
| NM_201631.3:c.640del | NP_963925.2:p.Leu214CysfsTer15 | |
| XM_011522229.1:c.640del | XP_011520531.1:p.Leu214CysfsTer15 | |
| XR_931948.1:n.814del | ||
| NM_004245.4:c.394del | NP_004236.1:p.Leu132CysfsTer15 | |
| NM_201631.4:c.640del MANE Select | NP_963925.2:p.Leu214CysfsTer15 |