Linked Data
dbSNP Id:
rs780411087
ExAC:
19:33878429 CAT / C
gnomAD v2:
19-33878429-CAT-C
gnomAD v3:
19-33387523-CAT-C
gnomAD v4:
19-33387523-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33387524_33387525del , CM000681.2:g.33387524_33387525del | GRCh38 |
| NC_000019.9:g.33878430_33878431del , CM000681.1:g.33878430_33878431del | GRCh37 |
| NC_000019.8:g.38570270_38570271del | NCBI36 |
| NG_013358.1:g.139369_139370del | |
| NG_013358.2:g.139369_139370del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.1411-44_1411-43del | ENSP00000468516.4:n.1411-44_1411-43del | |
| ENST00000651901.2:c.1435-44_1435-43del | ENSP00000498922.2:n.1435-44_1435-43del | |
| ENST00000698359.1:c.1300-44_1300-43del | ENSP00000513682.1:n.1300-44_1300-43del | |
| ENST00000698360.1:c.1396-44_1396-43del | ENSP00000513683.1:n.1396-44_1396-43del | |
| ENST00000698361.1:c.1461-44_1461-43del | ENSP00000513684.1:n.1461-44_1461-43del | |
| ENST00000698362.1:c.*438_*439del | ENSP00000513685.1:n.*438_*439del | |
| ENST00000698426.1:c.1024-44_1024-43del | ENSP00000513713.1:n.1024-44_1024-43del | |
| ENST00000698427.1:c.1387-44_1387-43del | ENSP00000513714.1:n.1387-44_1387-43del | |
| ENST00000698428.1:c.1024-44_1024-43del | ENSP00000513715.1:n.1024-44_1024-43del | |
| ENST00000698429.1:n.1228-44_1228-43del | ||
| ENST00000698430.1:c.1595-44_1595-43del | ||
| ENST00000698431.1:c.1082-44_1082-43del | ENSP00000513717.1:n.1082-44_1082-43del | |
| ENST00000698432.1:c.1154-44_1154-43del | ||
| ENST00000698433.1:n.807-44_807-43del | ||
| ENST00000244137.12:c.1345-44_1345-43del MANE Select | ENSP00000244137.5:n.1345-44_1345-43del | |
| ENST00000588328.6:c.1400-44_1400-43del | ||
| ENST00000651901.1:c.1431-44_1431-43del | ||
| ENST00000244137.11:c.1345-44_1345-43del | ENSP00000244137.5:n.1345-44_1345-43del | |
| ENST00000397032.8:c.1222-44_1222-43del | ENSP00000380226.3:n.1222-44_1222-43del | |
| ENST00000436370.7:c.1153-44_1153-43del | ENSP00000391890.2:n.1153-44_1153-43del | |
| ENST00000589598.5:n.70-44_70-43del | ||
| ENST00000591968.1:n.417-44_417-43del | ||
| ENST00000593085.1:n.1232-44_1232-43del | ||
| NM_000285.3:c.1345-44_1345-43del | NP_000276.2:n.1345-44_1345-43del | |
| NM_001166056.1:c.1222-44_1222-43del | NP_001159528.1:n.1222-44_1222-43del | |
| NM_001166057.1:c.1153-44_1153-43del | NP_001159529.1:n.1153-44_1153-43del | |
| NM_000285.4:c.1345-44_1345-43del MANE Select | NP_000276.2:n.1345-44_1345-43del | |
| NM_001166056.2:c.1222-44_1222-43del | NP_001159528.1:n.1222-44_1222-43del | |
| NM_001166057.2:c.1153-44_1153-43del | NP_001159529.1:n.1153-44_1153-43del |