Linked Data
ClinVar Variation Id:
581475
ClinVar RCV Id:
RCV000705308
dbSNP Id:
rs764011276
ExAC:
17:78032753 CG / C
gnomAD v2:
17-78032753-CG-C
gnomAD v3:
17-80058954-CG-C
gnomAD v4:
17-80058954-CG-C
MyVariant Identifiers:
chr17:g.78032755del (hg19)
chr17:g.78032754del (hg19)
chr17:g.80058956del (hg38)
chr17:g.80058955del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80058956del , CM000679.2:g.80058956del | GRCh38 |
| NC_000017.10:g.78032755del , CM000679.1:g.78032755del | GRCh37 |
| NC_000017.9:g.75647350del | NCBI36 |
| NG_029761.1:g.27325del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.1416del MANE Select | ENSP00000380679.4:p.Ile473PhefsTer2 | |
| ENST00000269318.9:c.1416del | ENSP00000269318.5:p.Ile473PhefsTer2 | |
| ENST00000374876.4:c.1317+305del | ENSP00000364010.4:n.1317+305del | |
| ENST00000374877.7:c.1416del | ENSP00000364011.3:p.Ile473PhefsTer2 | |
| ENST00000397545.8:c.1416del | ENSP00000380679.4:p.Ile473PhefsTer2 | |
| ENST00000571028.1:c.32del | ||
| ENST00000574799.5:n.953del | ||
| NM_001243342.1:c.1416del | NP_001230271.1:p.Ile473PhefsTer2 | |
| NM_017950.3:c.1416del | NP_060420.2:p.Ile473PhefsTer2 | |
| XM_005257492.3:c.1416del | XP_005257549.1:p.Ile473PhefsTer2 | |
| XM_011524963.1:c.1326del | XP_011523265.1:p.Ile443PhefsTer2 | |
| XM_011524964.1:c.237del | XP_011523266.1:p.Ile80PhefsTer2 | |
| XM_011524965.1:c.1416del | XP_011523267.1:p.Ile473PhefsTer2 | |
| XR_934495.1:n.1447del | ||
| NM_001330508.1:c.1416del | NP_001317437.1:p.Ile473PhefsTer2 | |
| XM_011524963.3:c.1326del | XP_011523265.1:p.Ile443PhefsTer2 | |
| XM_011524964.3:c.237del | XP_011523266.1:p.Ile80PhefsTer2 | |
| XM_011524965.3:c.1416del | XP_011523267.1:p.Ile473PhefsTer2 | |
| XM_017024807.1:c.1416del | XP_016880296.1:p.Ile473PhefsTer2 | |
| XM_024450821.1:c.1326del | XP_024306589.1:p.Ile443PhefsTer2 | |
| XR_001752550.2:n.1447del | ||
| XR_934495.2:n.1447del | ||
| NM_017950.4:c.1416del MANE Select | NP_060420.2:p.Ile473PhefsTer2 | |
| NM_001330508.2:c.1416del | NP_001317437.1:p.Ile473PhefsTer2 | |
| NM_001243342.2:c.1416del | NP_001230271.1:p.Ile473PhefsTer2 |