Linked Data
dbSNP Id:
rs1327239537
gnomAD v2:
19-33878279-CCTTGTCACAG-C
gnomAD v4:
19-33387373-CCTTGTCACAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33387375_33387384del , CM000681.2:g.33387375_33387384del | GRCh38 |
| NC_000019.9:g.33878281_33878290del , CM000681.1:g.33878281_33878290del | GRCh37 |
| NC_000019.8:g.38570121_38570130del | NCBI36 |
| NG_013358.1:g.139511_139520del | |
| NG_013358.2:g.139511_139520del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588328.7:c.1509_1518del | ENSP00000468516.4:p.Cys504ProfsTer? | |
| ENST00000651901.2:c.1533_1542del | ENSP00000498922.2:p.Cys512ProfsTer? | |
| ENST00000698359.1:c.1398_1407del | ENSP00000513682.1:p.Cys467ProfsTer? | |
| ENST00000698360.1:c.1494_1503del | ENSP00000513683.1:p.Cys499ProfsTer? | |
| ENST00000698361.1:c.*71_*80del | ENSP00000513684.1:n.*71_*80del | |
| ENST00000698362.1:c.*580_*589del | ENSP00000513685.1:n.*580_*589del | |
| ENST00000698426.1:c.1122_1131del | ENSP00000513713.1:p.Cys375ProfsTer? | |
| ENST00000698427.1:c.1485_1494del | ENSP00000513714.1:p.Cys496ProfsTer? | |
| ENST00000698428.1:c.1122_1131del | ENSP00000513715.1:p.Cys375ProfsTer? | |
| ENST00000698429.1:n.1326_1335del | ||
| ENST00000698430.1:c.1693_1702del | ||
| ENST00000698431.1:c.1180_1189del | ENSP00000513717.1:n.1180_1189del | |
| ENST00000698432.1:c.1252_1261del | ||
| ENST00000698433.1:n.905_914del | ||
| ENST00000244137.12:c.1443_1452del MANE Select | ENSP00000244137.5:p.Cys482ProfsTer? | |
| ENST00000588328.6:c.1498_1507del | ||
| ENST00000651901.1:c.1529_1538del | ||
| ENST00000244137.11:c.1443_1452del | ENSP00000244137.5:p.Cys482ProfsTer? | |
| ENST00000397032.8:c.1320_1329del | ENSP00000380226.3:p.Cys441ProfsTer? | |
| ENST00000436370.7:c.1251_1260del | ENSP00000391890.2:p.Cys418ProfsTer? | |
| ENST00000589598.5:n.168_177del | ||
| ENST00000591968.1:n.515_524del | ||
| ENST00000593085.1:n.1330_1339del | ||
| NM_000285.3:c.1443_1452del | NP_000276.2:p.Cys482ProfsTer? | |
| NM_001166056.1:c.1320_1329del | NP_001159528.1:p.Cys441ProfsTer? | |
| NM_001166057.1:c.1251_1260del | NP_001159529.1:p.Cys418ProfsTer? | |
| NM_000285.4:c.1443_1452del MANE Select | NP_000276.2:p.Cys482ProfsTer? | |
| NM_001166056.2:c.1320_1329del | NP_001159528.1:p.Cys441ProfsTer? | |
| NM_001166057.2:c.1251_1260del | NP_001159529.1:p.Cys418ProfsTer? |