Linked Data
dbSNP Id:
rs1464468455
gnomAD v3:
19-33387494-GACAGAC-G
gnomAD v4:
19-33387494-GACAGAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33387498_33387503del , CM000681.2:g.33387498_33387503del | GRCh38 |
| NC_000019.9:g.33878404_33878409del , CM000681.1:g.33878404_33878409del | GRCh37 |
| NC_000019.8:g.38570244_38570249del | NCBI36 |
| NG_013358.1:g.139394_139399del | |
| NG_013358.2:g.139394_139399del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.1411-19_1411-14del | ENSP00000468516.4:n.1411-19_1411-14del | |
| ENST00000651901.2:c.1435-19_1435-14del | ENSP00000498922.2:n.1435-19_1435-14del | |
| ENST00000698359.1:c.1300-19_1300-14del | ENSP00000513682.1:n.1300-19_1300-14del | |
| ENST00000698360.1:c.1396-19_1396-14del | ENSP00000513683.1:n.1396-19_1396-14del | |
| ENST00000698361.1:c.1461-19_1461-14del | ENSP00000513684.1:n.1461-19_1461-14del | |
| ENST00000698362.1:c.*463_*468del | ENSP00000513685.1:n.*463_*468del | |
| ENST00000698426.1:c.1024-19_1024-14del | ENSP00000513713.1:n.1024-19_1024-14del | |
| ENST00000698427.1:c.1387-19_1387-14del | ENSP00000513714.1:n.1387-19_1387-14del | |
| ENST00000698428.1:c.1024-19_1024-14del | ENSP00000513715.1:n.1024-19_1024-14del | |
| ENST00000698429.1:n.1228-19_1228-14del | ||
| ENST00000698430.1:c.1595-19_1595-14del | ||
| ENST00000698431.1:c.1082-19_1082-14del | ENSP00000513717.1:n.1082-19_1082-14del | |
| ENST00000698432.1:c.1154-19_1154-14del | ||
| ENST00000698433.1:n.807-19_807-14del | ||
| ENST00000244137.12:c.1345-19_1345-14del MANE Select | ENSP00000244137.5:n.1345-19_1345-14del | |
| ENST00000588328.6:c.1400-19_1400-14del | ||
| ENST00000651901.1:c.1431-19_1431-14del | ||
| ENST00000244137.11:c.1345-19_1345-14del | ENSP00000244137.5:n.1345-19_1345-14del | |
| ENST00000397032.8:c.1222-19_1222-14del | ENSP00000380226.3:n.1222-19_1222-14del | |
| ENST00000436370.7:c.1153-19_1153-14del | ENSP00000391890.2:n.1153-19_1153-14del | |
| ENST00000589598.5:n.70-19_70-14del | ||
| ENST00000591968.1:n.417-19_417-14del | ||
| ENST00000593085.1:n.1232-19_1232-14del | ||
| NM_000285.3:c.1345-19_1345-14del | NP_000276.2:n.1345-19_1345-14del | |
| NM_001166056.1:c.1222-19_1222-14del | NP_001159528.1:n.1222-19_1222-14del | |
| NM_001166057.1:c.1153-19_1153-14del | NP_001159529.1:n.1153-19_1153-14del | |
| NM_000285.4:c.1345-19_1345-14del MANE Select | NP_000276.2:n.1345-19_1345-14del | |
| NM_001166056.2:c.1222-19_1222-14del | NP_001159528.1:n.1222-19_1222-14del | |
| NM_001166057.2:c.1153-19_1153-14del | NP_001159529.1:n.1153-19_1153-14del |