gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42405936_42405938del , CM000677.2:g.42405936_42405938del | GRCh38 |
| NC_000015.9:g.42698134_42698136del , CM000677.1:g.42698134_42698136del | GRCh37 |
| NC_000015.8:g.40485426_40485428del | NCBI36 |
| NG_008660.1:g.62834_62836del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337571.9:c.-82+968_-82+970del | ENSP00000336840.4:n.-82+968_-82+970del | |
| ENST00000349748.8:c.1638+2159_1638+2161del | ENSP00000183936.4:n.1638+2159_1638+2161del | |
| ENST00000357568.8:c.1782+2159_1782+2161del | ENSP00000350181.3:n.1782+2159_1782+2161del | |
| ENST00000397163.8:c.1793_1795del MANE Select | ENSP00000380349.3:p.Lys598del | |
| ENST00000397204.9:c.-89_-87del | ENSP00000380387.4:n.-89_-87del | |
| ENST00000466369.5:n.2291+2159_2291+2161del | ||
| ENST00000495723.1:n.2671+2159_2671+2161del | ||
| ENST00000549793.5:n.2013+2159_2013+2161del | ||
| ENST00000565173.2:n.174+981_174+983del | ||
| ENST00000569136.6:c.-203_-201del | ENSP00000455254.1:n.-203_-201del | |
| ENST00000638141.2:n.1653+2159_1653+2161del | ||
| ENST00000673646.1:c.357_359del | ENSP00000501007.1:n.357_359del | |
| ENST00000673692.1:c.-4+1085_-4+1087del | ENSP00000501138.1:n.-4+1085_-4+1087del | |
| ENST00000673705.1:c.310-3367_310-3365del | ENSP00000501021.1:n.310-3367_310-3365del | |
| ENST00000673743.1:c.-437+981_-437+983del | ENSP00000500989.1:n.-437+981_-437+983del | |
| ENST00000673750.1:c.-2470_-2468del | ENSP00000501173.1:n.-2470_-2468del | |
| ENST00000673771.1:c.-196+968_-196+970del | ENSP00000501023.1:n.-196+968_-196+970del | |
| ENST00000673839.1:c.-340+981_-340+983del | ENSP00000501188.1:n.-340+981_-340+983del | |
| ENST00000673851.1:c.-547_-545del | ENSP00000501142.1:n.-547_-545del | |
| ENST00000673854.1:n.1970_1972del | ||
| ENST00000673886.1:c.-928-761_-928-759del | ENSP00000501155.1:n.-928-761_-928-759del | |
| ENST00000673890.1:c.-196+981_-196+983del | ENSP00000501293.1:n.-196+981_-196+983del | |
| ENST00000673928.1:c.-340+981_-340+983del | ENSP00000501099.1:n.-340+981_-340+983del | |
| ENST00000673936.1:c.-196+1085_-196+1087del | ENSP00000501189.1:n.-196+1085_-196+1087del | |
| ENST00000673939.1:c.-82+981_-82+983del | ENSP00000501129.1:n.-82+981_-82+983del | |
| ENST00000673978.1:c.-362+981_-362+983del | ENSP00000500976.1:n.-362+981_-362+983del | |
| ENST00000673987.1:c.-203_-201del | ENSP00000501231.1:n.-203_-201del | |
| ENST00000674011.1:c.-196+981_-196+983del | ENSP00000501171.1:n.-196+981_-196+983del | |
| ENST00000674012.1:n.75+968_75+970del | ||
| ENST00000674018.1:c.-540+968_-540+970del | ENSP00000501271.1:n.-540+968_-540+970del | |
| ENST00000674041.1:c.-82+981_-82+983del | ENSP00000500956.1:n.-82+981_-82+983del | |
| ENST00000674052.1:c.17_19del | ENSP00000501057.1:p.Lys6del | |
| ENST00000674064.1:n.179+981_179+983del | ||
| ENST00000674093.1:c.-82+981_-82+983del | ENSP00000501303.1:n.-82+981_-82+983del | |
| ENST00000674119.1:c.-82+1085_-82+1087del | ENSP00000501217.1:n.-82+1085_-82+1087del | |
| ENST00000674135.1:c.-132+981_-132+983del | ENSP00000501178.1:n.-132+981_-132+983del | |
| ENST00000674139.1:c.-2470_-2468del | ENSP00000501054.1:n.-2470_-2468del | |
| ENST00000674146.1:c.-531_-529del | ENSP00000501175.1:n.-531_-529del | |
| ENST00000674149.1:c.-524+981_-524+983del | ENSP00000501112.1:n.-524+981_-524+983del | |
| ENST00000318023.11:c.1649_1651del | ENSP00000326281.8:p.Lys550del | |
| ENST00000337571.8:c.-82+981_-82+983del | ENSP00000336840.4:n.-82+981_-82+983del | |
| ENST00000349748.7:c.1638+2159_1638+2161del | ENSP00000183936.4:n.1638+2159_1638+2161del | |
| ENST00000356316.7:c.-91+972_-91+974del | ENSP00000348667.4:n.-91+972_-91+974del | |
| ENST00000357568.7:c.1782+2159_1782+2161del | ENSP00000350181.3:n.1782+2159_1782+2161del | |
| ENST00000397163.7:c.1793_1795del | ENSP00000380349.3:p.Lys598del | |
| ENST00000397200.8:c.257_259del | ENSP00000380384.4:p.Lys86del | |
| ENST00000397204.8:c.-89_-87del | ENSP00000380387.4:n.-89_-87del | |
| ENST00000561817.5:c.-82+981_-82+983del | ENSP00000456575.1:n.-82+981_-82+983del | |
| ENST00000565173.1:n.129+981_129+983del | ||
| ENST00000565274.5:c.5_7del | ENSP00000457759.1:p.Lys2del | |
| ENST00000565559.5:c.-139_-137del | ENSP00000457878.1:n.-139_-137del | |
| ENST00000567071.5:c.252_254del | ||
| ENST00000569136.5:c.-203_-201del | ENSP00000455254.1:n.-203_-201del | |
| ENST00000569827.5:c.246+2159_246+2161del | ENSP00000454379.1:n.246+2159_246+2161del | |
| NM_000070.2:c.1793_1795del | NP_000061.1:p.Lys598del | |
| NM_024344.1:c.1782+2159_1782+2161del | NP_077320.1:n.1782+2159_1782+2161del | |
| NM_173087.1:c.1638+2159_1638+2161del | NP_775110.1:n.1638+2159_1638+2161del | |
| NM_173088.1:c.257_259del | NP_775111.1:p.Lys86del | |
| NM_173089.1:c.-82+981_-82+983del | NP_775112.1:n.-82+981_-82+983del | |
| NM_173090.1:c.-89_-87del | NP_775113.1:n.-89_-87del | |
| NM_000070.3:c.1793_1795del MANE Select | NP_000061.1:p.Lys598del | |
| NM_024344.2:c.1782+2159_1782+2161del | NP_077320.1:n.1782+2159_1782+2161del | |
| NM_173087.2:c.1638+2159_1638+2161del | NP_775110.1:n.1638+2159_1638+2161del | |
| NM_173088.2:c.257_259del | NP_775111.1:p.Lys86del | |
| NM_173089.2:c.-82+981_-82+983del | NP_775112.1:n.-82+981_-82+983del | |
| NM_173090.2:c.-89_-87del | NP_775113.1:n.-89_-87del |