gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78267549del , CM000667.2:g.78267549del | GRCh38 |
| NC_000005.9:g.77563373del , CM000667.1:g.77563373del | GRCh37 |
| NC_000005.8:g.77599129del | NCBI36 |
| NG_007268.1:g.32158del , LRG_170:g.32158del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517561.2:c.177del | ENSP00000511839.1:p.Lys59AsnfsTer5 | |
| ENST00000517940.2:c.177del | ENSP00000511881.1:p.Lys59AsnfsTer5 | |
| ENST00000519295.6:c.30del | ENSP00000430597.1:p.Lys10AsnfsTer5 | |
| ENST00000519888.6:c.177del | ENSP00000511880.1:p.Lys59AsnfsTer5 | |
| ENST00000695447.1:c.177del | ENSP00000511917.1:p.Lys59AsnfsTer5 | |
| ENST00000695449.1:c.*222del | ENSP00000511918.1:n.*222del | |
| ENST00000695450.1:c.177del | ENSP00000511919.1:p.Lys59AsnfsTer5 | |
| ENST00000695451.1:c.177del | ENSP00000511920.1:p.Lys59AsnfsTer5 | |
| ENST00000695452.1:n.298del | ||
| ENST00000695453.1:c.177del | ENSP00000511921.1:p.Lys59AsnfsTer5 | |
| ENST00000695454.1:c.177del | ENSP00000511922.1:p.Lys59AsnfsTer5 | |
| ENST00000695455.1:c.30del | ENSP00000511923.1:p.Lys10AsnfsTer5 | |
| ENST00000695488.1:c.177del | ENSP00000511959.1:p.Lys59AsnfsTer5 | |
| ENST00000695505.1:n.335del | ||
| ENST00000695507.1:c.177del | ENSP00000511970.1:p.Lys59AsnfsTer5 | |
| ENST00000695510.1:c.177del | ENSP00000511973.1:p.Lys59AsnfsTer5 | |
| ENST00000695511.1:c.177del | ENSP00000511974.1:p.Lys59AsnfsTer5 | |
| ENST00000695512.1:c.177del | ENSP00000511975.1:p.Lys59AsnfsTer5 | |
| ENST00000695513.1:c.30del | ENSP00000511976.1:p.Lys10AsnfsTer5 | |
| ENST00000695514.1:c.177del | ENSP00000511977.1:p.Lys59AsnfsTer5 | |
| ENST00000695515.1:c.177del | ENSP00000511978.1:p.Lys59AsnfsTer5 | |
| ENST00000695540.1:n.333del | ||
| ENST00000255194.11:c.177del MANE Select | ENSP00000255194.7:p.Lys59AsnfsTer5 | |
| ENST00000255194.10:c.177del | ENSP00000255194.6:p.Lys59AsnfsTer5 | |
| ENST00000519295.5:c.30del | ENSP00000430597.1:p.Lys10AsnfsTer5 | |
| NM_001271769.1:c.30del | NP_001258698.1:p.Lys10AsnfsTer5 | |
| NM_003664.4:c.177del , LRG_170t1:c.177del | NP_003655.3:p.Lys59AsnfsTer5 | |
| XM_005248618.2:c.177del | XP_005248675.1:p.Lys59AsnfsTer5 | |
| XM_005248619.3:c.177del | XP_005248676.1:p.Lys59AsnfsTer5 | |
| XM_005248618.4:c.177del | XP_005248675.1:p.Lys59AsnfsTer5 | |
| XM_005248619.5:c.177del | XP_005248676.1:p.Lys59AsnfsTer5 | |
| XM_017010001.1:c.30del | XP_016865490.1:p.Lys10AsnfsTer5 | |
| NM_001271769.2:c.30del | NP_001258698.1:p.Lys10AsnfsTer5 | |
| NM_003664.5:c.177del MANE Select | NP_003655.3:p.Lys59AsnfsTer5 |