gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80239362del , CM000674.2:g.80239362del | GRCh38 |
| NC_000012.11:g.80633142del , CM000674.1:g.80633142del | GRCh37 |
| NC_000012.10:g.79157273del | NCBI36 |
| NG_033008.1:g.34910del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547103.7:c.975del MANE Select | ENSP00000447211.2:p.Leu325PhefsTer6 | |
| ENST00000643417.1:n.1635del | ||
| ENST00000646859.1:c.975del | ENSP00000496036.1:p.Leu325PhefsTer6 | |
| ENST00000458043.6:c.948del | ENSP00000400895.2:p.Leu316PhefsTer6 | |
| ENST00000547103.5:c.948del | ENSP00000447211.1:p.Leu316PhefsTer6 | |
| NM_173591.3:c.948del | NP_775862.3:p.Leu316PhefsTer6 | |
| XM_005268802.2:c.999del | XP_005268859.1:p.Leu333PhefsTer6 | |
| XM_011538191.1:c.999del | XP_011536493.1:p.Leu333PhefsTer6 | |
| XM_011538192.1:c.846del | XP_011536494.1:p.Leu282PhefsTer6 | |
| XM_011538193.1:c.633del | XP_011536495.1:p.Leu211PhefsTer6 | |
| XM_005268802.3:c.999del | XP_005268859.1:p.Leu333PhefsTer6 | |
| XM_011538192.2:c.846del | XP_011536494.1:p.Leu282PhefsTer6 | |
| NM_001368062.1:c.948del | NP_001354991.1:p.Leu316PhefsTer6 | |
| NM_001368062.3:c.975del | NP_001354991.2:p.Leu325PhefsTer6 | |
| NM_001378609.3:c.975del MANE Select | NP_001365538.2:p.Leu325PhefsTer6 | |
| NM_001378610.3:c.975del | NP_001365539.2:p.Leu325PhefsTer6 | |
| NM_173591.7:c.975del | NP_775862.4:p.Leu325PhefsTer6 |