gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42405938del , CM000677.2:g.42405938del | GRCh38 |
| NC_000015.9:g.42698136del , CM000677.1:g.42698136del | GRCh37 |
| NC_000015.8:g.40485428del | NCBI36 |
| NG_008660.1:g.62836del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337571.9:c.-82+970del | ENSP00000336840.4:n.-82+970del | |
| ENST00000349748.8:c.1638+2161del | ENSP00000183936.4:n.1638+2161del | |
| ENST00000357568.8:c.1782+2161del | ENSP00000350181.3:n.1782+2161del | |
| ENST00000397163.8:c.1795del MANE Select | ENSP00000380349.3:p.Thr599ProfsTer? | |
| ENST00000397204.9:c.-87del | ENSP00000380387.4:n.-87del | |
| ENST00000466369.5:n.2291+2161del | ||
| ENST00000495723.1:n.2671+2161del | ||
| ENST00000549793.5:n.2013+2161del | ||
| ENST00000565173.2:n.174+983del | ||
| ENST00000569136.6:c.-201del | ENSP00000455254.1:n.-201del | |
| ENST00000638141.2:n.1653+2161del | ||
| ENST00000673646.1:c.359del | ENSP00000501007.1:n.359del | |
| ENST00000673692.1:c.-4+1087del | ENSP00000501138.1:n.-4+1087del | |
| ENST00000673705.1:c.310-3365del | ENSP00000501021.1:n.310-3365del | |
| ENST00000673743.1:c.-437+983del | ENSP00000500989.1:n.-437+983del | |
| ENST00000673750.1:c.-2468del | ENSP00000501173.1:n.-2468del | |
| ENST00000673771.1:c.-196+970del | ENSP00000501023.1:n.-196+970del | |
| ENST00000673839.1:c.-340+983del | ENSP00000501188.1:n.-340+983del | |
| ENST00000673851.1:c.-545del | ENSP00000501142.1:n.-545del | |
| ENST00000673854.1:n.1972del | ||
| ENST00000673886.1:c.-928-759del | ENSP00000501155.1:n.-928-759del | |
| ENST00000673890.1:c.-196+983del | ENSP00000501293.1:n.-196+983del | |
| ENST00000673928.1:c.-340+983del | ENSP00000501099.1:n.-340+983del | |
| ENST00000673936.1:c.-196+1087del | ENSP00000501189.1:n.-196+1087del | |
| ENST00000673939.1:c.-82+983del | ENSP00000501129.1:n.-82+983del | |
| ENST00000673978.1:c.-362+983del | ENSP00000500976.1:n.-362+983del | |
| ENST00000673987.1:c.-201del | ENSP00000501231.1:n.-201del | |
| ENST00000674011.1:c.-196+983del | ENSP00000501171.1:n.-196+983del | |
| ENST00000674012.1:n.75+970del | ||
| ENST00000674018.1:c.-540+970del | ENSP00000501271.1:n.-540+970del | |
| ENST00000674041.1:c.-82+983del | ENSP00000500956.1:n.-82+983del | |
| ENST00000674052.1:c.19del | ENSP00000501057.1:p.Thr7ProfsTer? | |
| ENST00000674064.1:n.179+983del | ||
| ENST00000674093.1:c.-82+983del | ENSP00000501303.1:n.-82+983del | |
| ENST00000674119.1:c.-82+1087del | ENSP00000501217.1:n.-82+1087del | |
| ENST00000674135.1:c.-132+983del | ENSP00000501178.1:n.-132+983del | |
| ENST00000674139.1:c.-2468del | ENSP00000501054.1:n.-2468del | |
| ENST00000674146.1:c.-529del | ENSP00000501175.1:n.-529del | |
| ENST00000674149.1:c.-524+983del | ENSP00000501112.1:n.-524+983del | |
| ENST00000318023.11:c.1651del | ENSP00000326281.8:p.Thr551ProfsTer? | |
| ENST00000337571.8:c.-82+983del | ENSP00000336840.4:n.-82+983del | |
| ENST00000349748.7:c.1638+2161del | ENSP00000183936.4:n.1638+2161del | |
| ENST00000356316.7:c.-91+974del | ENSP00000348667.4:n.-91+974del | |
| ENST00000357568.7:c.1782+2161del | ENSP00000350181.3:n.1782+2161del | |
| ENST00000397163.7:c.1795del | ENSP00000380349.3:p.Thr599ProfsTer? | |
| ENST00000397200.8:c.259del | ENSP00000380384.4:p.Thr87ProfsTer? | |
| ENST00000397204.8:c.-87del | ENSP00000380387.4:n.-87del | |
| ENST00000561817.5:c.-82+983del | ENSP00000456575.1:n.-82+983del | |
| ENST00000565173.1:n.129+983del | ||
| ENST00000565274.5:c.7del | ENSP00000457759.1:p.Thr3ProfsTer? | |
| ENST00000565559.5:c.-137del | ENSP00000457878.1:n.-137del | |
| ENST00000567071.5:c.254del | ||
| ENST00000569136.5:c.-201del | ENSP00000455254.1:n.-201del | |
| ENST00000569827.5:c.246+2161del | ENSP00000454379.1:n.246+2161del | |
| NM_000070.2:c.1795del | NP_000061.1:p.Thr599ProfsTer? | |
| NM_024344.1:c.1782+2161del | NP_077320.1:n.1782+2161del | |
| NM_173087.1:c.1638+2161del | NP_775110.1:n.1638+2161del | |
| NM_173088.1:c.259del | NP_775111.1:p.Thr87ProfsTer? | |
| NM_173089.1:c.-82+983del | NP_775112.1:n.-82+983del | |
| NM_173090.1:c.-87del | NP_775113.1:n.-87del | |
| NM_000070.3:c.1795del MANE Select | NP_000061.1:p.Thr599ProfsTer? | |
| NM_024344.2:c.1782+2161del | NP_077320.1:n.1782+2161del | |
| NM_173087.2:c.1638+2161del | NP_775110.1:n.1638+2161del | |
| NM_173088.2:c.259del | NP_775111.1:p.Thr87ProfsTer? | |
| NM_173089.2:c.-82+983del | NP_775112.1:n.-82+983del | |
| NM_173090.2:c.-87del | NP_775113.1:n.-87del |