Linked Data
ClinVar Variation Id:
183335
dbSNP Id:
rs730882238
ExAC:
19:11353954 CAGTT / C
gnomAD v2:
19-11353954-CAGTT-C
gnomAD v3:
19-11243278-CAGTT-C
gnomAD v4:
19-11243278-CAGTT-C
MyVariant Identifiers:
chr19:g.11353955_11353958del (hg19)
chr19:g.11243280_11243283del (hg38)
chr19:g.11243279_11243282del (hg38)
PubMed:
PMID:25558065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11243281_11243284del , CM000681.2:g.11243281_11243284del | GRCh38 |
| NC_000019.9:g.11353957_11353960del , CM000681.1:g.11353957_11353960del | GRCh37 |
| NC_000019.8:g.11214957_11214960del | NCBI36 |
| NG_031953.1:g.24211_24214del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587656.6:c.1362_1365del | ENSP00000468638.2:p.Thr455SerfsTer24 | |
| ENST00000294618.12:c.1362_1365del MANE Select | ENSP00000294618.6:p.Thr455SerfsTer24 | |
| ENST00000294618.11:c.1362_1365del | ENSP00000294618.6:p.Thr455SerfsTer24 | |
| NM_020812.3:c.1362_1365del | NP_065863.2:p.Thr455SerfsTer24 | |
| XM_005260000.2:c.1362_1365del | XP_005260057.1:p.Thr455SerfsTer24 | |
| XM_005260001.2:c.1362_1365del | XP_005260058.1:p.Thr455SerfsTer24 | |
| XM_011528150.1:c.1395_1398del | XP_011526452.1:p.Thr466SerfsTer24 | |
| XM_011528151.1:c.1395_1398del | XP_011526453.1:p.Thr466SerfsTer24 | |
| XM_011528152.1:c.1395_1398del | XP_011526454.1:p.Thr466SerfsTer24 | |
| XM_011528153.1:c.1395_1398del | XP_011526455.1:p.Thr466SerfsTer24 | |
| XR_936195.1:n.1456_1459del | ||
| XR_936196.1:n.1456_1459del | ||
| XR_936197.1:n.1456_1459del | ||
| XR_936198.1:n.1456_1459del | ||
| NM_001367830.1:c.1362_1365del | NP_001354759.1:p.Thr455SerfsTer24 | |
| NM_020812.4:c.1362_1365del MANE Select | NP_065863.2:p.Thr455SerfsTer24 |