Linked Data
ClinVar Variation Id:
53898
dbSNP Id:
rs397508680
gnomAD v4:
7-117665460-AC-A
PubMed:
PMID:7515303
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117665461del , CM000669.2:g.117665461del | GRCh38 |
| NC_000007.13:g.117305515del , CM000669.1:g.117305515del | GRCh37 |
| NC_000007.12:g.117092751del | NCBI36 |
| NG_016465.4:g.204678del , LRG_663:g.204678del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*348del | ENSP00000497673.2:n.*348del | |
| ENST00000647978.2:c.*3853del | ENSP00000497658.1:n.*3853del | |
| ENST00000649781.2:c.3956del | ENSP00000497203.1:p.Thr1319AsnfsTer4 | |
| ENST00000685018.2:c.*352del | ENSP00000510194.2:n.*352del | |
| ENST00000687278.2:c.*792del | ENSP00000509593.2:n.*792del | |
| ENST00000699585.1:c.*348del | ENSP00000514456.1:n.*348del | |
| ENST00000699598.1:c.4139del | ENSP00000514467.1:p.Thr1380AsnfsTer4 | |
| ENST00000699599.1:c.*352del | ENSP00000514468.1:n.*352del | |
| ENST00000699600.1:c.*800del | ENSP00000514469.1:n.*800del | |
| ENST00000699601.1:c.*2514del | ENSP00000514470.1:n.*2514del | |
| ENST00000699602.1:c.4133del | ENSP00000514471.1:p.Thr1378AsnfsTer4 | |
| ENST00000699604.1:c.*3963del | ENSP00000514472.1:n.*3963del | |
| ENST00000699605.1:c.3713del | ENSP00000514473.1:p.Thr1238AsnfsTer4 | |
| ENST00000699606.1:n.2307del | ||
| ENST00000685018.1:c.1003del | ENSP00000510194.1:n.1003del | |
| ENST00000687278.1:c.1926del | ENSP00000509593.1:n.1926del | |
| ENST00000689011.1:c.721del | ||
| ENST00000003084.11:c.4139del MANE Select | ENSP00000003084.6:p.Thr1380AsnfsTer4 | |
| ENST00000647720.1:c.1589del | ||
| ENST00000649781.1:c.3956del | ENSP00000497203.1:p.Thr1319AsnfsTer4 | |
| ENST00000003084.10:c.4139del | ENSP00000003084.6:p.Thr1380AsnfsTer4 | |
| ENST00000426809.5:c.4049del | ENSP00000389119.1:p.Thr1350AsnfsTer4 | |
| ENST00000600166.1:c.265del | ||
| NM_000492.3:c.4139del , LRG_663t1:c.4139del | NP_000483.3:p.Thr1380AsnfsTer4 | |
| XM_011515751.1:c.4229del | XP_011514053.1:p.Thr1410AsnfsTer4 | |
| XM_011515752.1:c.4229del | XP_011514054.1:p.Thr1410AsnfsTer4 | |
| XM_011515753.1:c.3896del | XP_011514055.1:p.Thr1299AsnfsTer4 | |
| XM_011515754.1:c.3896del | XP_011514056.1:p.Thr1299AsnfsTer4 | |
| NM_000492.4:c.4139del MANE Select | NP_000483.3:p.Thr1380AsnfsTer4 |