Linked Data
ClinVar Variation Id:
18229
ClinVar RCV Id:
RCV000019890
dbSNP Id:
rs74674594
PubMed:
PMID:8022807
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73419625del , CM000666.2:g.73419625del | GRCh38 |
| NC_000004.11:g.74285342del , CM000666.1:g.74285342del | GRCh37 |
| NC_000004.10:g.74504206del | NCBI36 |
| NG_009291.1:g.20371del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1771del MANE Select | ENSP00000295897.4:p.Cys591AlafsTer17 | |
| ENST00000295897.8:c.1771del | ENSP00000295897.4:p.Cys591AlafsTer17 | |
| ENST00000401494.7:c.1426del | ENSP00000384695.3:p.Cys476AlafsTer17 | |
| ENST00000415165.6:c.1195del | ENSP00000401820.2:p.Cys399AlafsTer17 | |
| ENST00000476441.6:c.*1050del | ENSP00000423727.1:n.*1050del | |
| ENST00000495173.1:n.79del | ||
| ENST00000503124.5:c.1321del | ENSP00000421027.1:p.Cys441AlafsTer17 | |
| ENST00000505649.5:n.1318del | ||
| ENST00000508932.5:n.175+170del | ||
| ENST00000509063.5:c.1771del | ENSP00000422784.1:p.Cys591AlafsTer8 | |
| ENST00000511370.1:c.1304del | ||
| ENST00000621085.4:c.1132del | ENSP00000483421.1:p.Cys378AlafsTer17 | |
| ENST00000621628.4:c.1132del | ENSP00000480485.1:p.Cys378AlafsTer17 | |
| NM_000477.5:c.1771del | NP_000468.1:p.Cys591AlafsTer17 | |
| NM_000477.6:c.1771del | NP_000468.1:p.Cys591AlafsTer17 | |
| NM_000477.7:c.1771del MANE Select | NP_000468.1:p.Cys591AlafsTer17 |