gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35106394_35106397del , CM000679.2:g.35106394_35106397del | GRCh38 |
| NC_000017.10:g.33433413_33433416del , CM000679.1:g.33433413_33433416del | GRCh37 |
| NC_000017.9:g.30457526_30457529del | NCBI36 |
| NG_031858.1:g.18473_18476del , LRG_516:g.18473_18476del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.430_433del | ENSP00000468273.3:p.Val144ProfsTer4 | |
| ENST00000587405.6:c.208_211del | ENSP00000466478.2:p.Val70ProfsTer4 | |
| ENST00000590016.6:c.625_628del | ENSP00000466399.1:p.Val209ProfsTer4 | |
| ENST00000590631.2:n.521_524del | ||
| ENST00000592577.6:c.208_211del | ENSP00000466839.2:p.Val70ProfsTer4 | |
| ENST00000345365.11:c.565_568del MANE Select | ENSP00000338790.6:p.Val189ProfsTer4 | |
| ENST00000335858.11:c.229_232del | ENSP00000338408.6:p.Val77ProfsTer4 | |
| ENST00000345365.10:c.565_568del | ENSP00000338790.6:p.Val189ProfsTer4 | |
| ENST00000394589.8:c.565_568del | ENSP00000378090.4:p.Val189ProfsTer4 | |
| ENST00000415064.6:n.715_718del | ||
| ENST00000460118.6:c.34_37del | ENSP00000464356.2:p.Val12ProfsTer4 | |
| ENST00000585947.5:n.461_464del | ||
| ENST00000585982.5:n.585_588del | ||
| ENST00000586044.5:c.*296_*299del | ENSP00000465584.1:n.*296_*299del | |
| ENST00000586210.5:c.*159_*162del | ENSP00000465612.1:n.*159_*162del | |
| ENST00000587405.5:c.208_211del | ENSP00000466478.1:p.Val70ProfsTer4 | |
| ENST00000587977.5:c.*305_*308del | ENSP00000466587.1:n.*305_*308del | |
| ENST00000587982.5:n.358_361del | ||
| ENST00000588372.5:c.208_211del | ENSP00000468764.1:p.Val70ProfsTer10 | |
| ENST00000588594.5:c.*161_*164del | ENSP00000465366.1:n.*161_*164del | |
| ENST00000590016.5:c.625_628del | ENSP00000466399.1:p.Val209ProfsTer4 | |
| ENST00000590631.1:c.34_37del | ENSP00000465033.1:p.Val12ProfsTer4 | |
| ENST00000591723.5:c.34_37del | ENSP00000467986.1:p.Val12ProfsTer4 | |
| ENST00000592181.1:c.208_211del | ENSP00000464799.1:p.Val70ProfsTer4 | |
| ENST00000592430.5:n.534_537del | ||
| ENST00000592577.5:c.571_574del | ENSP00000466839.1:p.Val191ProfsTer4 | |
| ENST00000593039.5:c.88_91del | ENSP00000466834.1:p.Val30ProfsTer4 | |
| NM_001142571.1:c.625_628del | NP_001136043.1:p.Val209ProfsTer4 | |
| NM_002878.3:c.565_568del , LRG_516t1:c.565_568del | NP_002869.3:p.Val189ProfsTer4 | |
| NM_133629.2:c.229_232del | NP_598332.1:p.Val77ProfsTer4 | |
| NR_037711.1:n.702_705del | ||
| NR_037712.1:n.567_570del | ||
| NR_037714.1:n.317_320del | ||
| NM_001142571.2:c.625_628del | NP_001136043.1:p.Val209ProfsTer4 | |
| NM_133629.3:c.229_232del | NP_598332.1:p.Val77ProfsTer4 | |
| NR_037711.2:n.591_594del | ||
| NR_037712.2:n.456_459del | ||
| NM_002878.4:c.565_568del MANE Select | NP_002869.3:p.Val189ProfsTer4 |