Linked Data
ClinVar Variation Id:
53587
dbSNP Id:
rs397508451
gnomAD v4:
7-117603769-CA-C
PubMed:
PMID:23974870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117603770del , CM000669.2:g.117603770del | GRCh38 |
| NC_000007.13:g.117243824del , CM000669.1:g.117243824del | GRCh37 |
| NC_000007.12:g.117031060del | NCBI36 |
| NG_016465.4:g.142987del , LRG_663:g.142987del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.2896del | ENSP00000497673.2:p.Thr966ArgfsTer2 | |
| ENST00000647978.2:c.*2610del | ENSP00000497658.1:n.*2610del | |
| ENST00000649781.2:c.2713del | ENSP00000497203.1:p.Thr905ArgfsTer2 | |
| ENST00000685018.2:c.2896del | ENSP00000510194.2:p.Thr966ArgfsTer2 | |
| ENST00000687278.2:c.2896del | ENSP00000509593.2:p.Thr966ArgfsTer2 | |
| ENST00000699585.1:c.2896del | ENSP00000514456.1:p.Thr966ArgfsTer2 | |
| ENST00000699598.1:c.2896del | ENSP00000514467.1:p.Thr966ArgfsTer2 | |
| ENST00000699599.1:c.2896del | ENSP00000514468.1:p.Thr966ArgfsTer2 | |
| ENST00000699600.1:c.2896del | ENSP00000514469.1:p.Thr966ArgfsTer2 | |
| ENST00000699601.1:c.*1196del | ENSP00000514470.1:n.*1196del | |
| ENST00000699602.1:c.2896del | ENSP00000514471.1:p.Thr966ArgfsTer2 | |
| ENST00000699604.1:c.*2720del | ENSP00000514472.1:n.*2720del | |
| ENST00000699605.1:c.2470del | ENSP00000514473.1:p.Thr824ArgfsTer2 | |
| ENST00000687278.1:c.487del | ENSP00000509593.1:p.Thr163ArgfsTer2 | |
| ENST00000003084.11:c.2896del MANE Select | ENSP00000003084.6:p.Thr966ArgfsTer2 | |
| ENST00000647720.1:c.546del | ||
| ENST00000648260.1:c.1678del | ENSP00000497957.1:p.Thr560ArgfsTer2 | |
| ENST00000649406.1:c.2713del | ENSP00000497965.1:p.Thr905ArgfsTer2 | |
| ENST00000649781.1:c.2713del | ENSP00000497203.1:p.Thr905ArgfsTer2 | |
| ENST00000003084.10:c.2896del | ENSP00000003084.6:p.Thr966ArgfsTer2 | |
| ENST00000426809.5:c.2806del | ENSP00000389119.1:p.Thr936ArgfsTer2 | |
| NM_000492.3:c.2896del , LRG_663t1:c.2896del | NP_000483.3:p.Thr966ArgfsTer2 | |
| XM_011515751.1:c.2986del | XP_011514053.1:p.Thr996ArgfsTer2 | |
| XM_011515752.1:c.2986del | XP_011514054.1:p.Thr996ArgfsTer2 | |
| XM_011515753.1:c.2653del | XP_011514055.1:p.Thr885ArgfsTer2 | |
| XM_011515754.1:c.2653del | XP_011514056.1:p.Thr885ArgfsTer2 | |
| NM_000492.4:c.2896del MANE Select | NP_000483.3:p.Thr966ArgfsTer2 |