Linked Data
ClinVar Variation Id:
370341
ClinVar RCV Id:
RCV000412107
dbSNP Id:
rs1057516415
gnomAD v4:
7-117610521-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117610523del , CM000669.2:g.117610523del | GRCh38 |
| NC_000007.13:g.117250577del , CM000669.1:g.117250577del | GRCh37 |
| NC_000007.12:g.117037813del | NCBI36 |
| NG_016465.4:g.149740del , LRG_663:g.149740del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.2993del | ENSP00000497673.2:p.Leu998TyrfsTer2 | |
| ENST00000647978.2:c.*2707del | ENSP00000497658.1:n.*2707del | |
| ENST00000649781.2:c.2810del | ENSP00000497203.1:p.Leu937TyrfsTer2 | |
| ENST00000685018.2:c.2993del | ENSP00000510194.2:p.Leu998TyrfsTer2 | |
| ENST00000687278.2:c.2993del | ENSP00000509593.2:p.Leu998TyrfsTer2 | |
| ENST00000699585.1:c.2993del | ENSP00000514456.1:p.Leu998TyrfsTer2 | |
| ENST00000699598.1:c.2993del | ENSP00000514467.1:p.Leu998TyrfsTer2 | |
| ENST00000699599.1:c.2993del | ENSP00000514468.1:p.Leu998TyrfsTer2 | |
| ENST00000699600.1:c.2993del | ENSP00000514469.1:p.Leu998TyrfsTer2 | |
| ENST00000699601.1:c.*1293del | ENSP00000514470.1:n.*1293del | |
| ENST00000699602.1:c.2993del | ENSP00000514471.1:p.Leu998TyrfsTer2 | |
| ENST00000699604.1:c.*2817del | ENSP00000514472.1:n.*2817del | |
| ENST00000699605.1:c.2567del | ENSP00000514473.1:p.Leu856TyrfsTer2 | |
| ENST00000687278.1:c.584del | ENSP00000509593.1:p.Leu195TyrfsTer2 | |
| ENST00000003084.11:c.2993del MANE Select | ENSP00000003084.6:p.Leu998TyrfsTer2 | |
| ENST00000647720.1:c.643del | ||
| ENST00000648260.1:c.1775del | ENSP00000497957.1:p.Leu592TyrfsTer2 | |
| ENST00000649406.1:c.2810del | ENSP00000497965.1:p.Leu937TyrfsTer2 | |
| ENST00000649781.1:c.2810del | ENSP00000497203.1:p.Leu937TyrfsTer2 | |
| ENST00000003084.10:c.2993del | ENSP00000003084.6:p.Leu998TyrfsTer2 | |
| ENST00000426809.5:c.2903del | ENSP00000389119.1:p.Leu968TyrfsTer2 | |
| NM_000492.3:c.2993del , LRG_663t1:c.2993del | NP_000483.3:p.Leu998TyrfsTer2 | |
| XM_011515751.1:c.3083del | XP_011514053.1:p.Leu1028TyrfsTer2 | |
| XM_011515752.1:c.3083del | XP_011514054.1:p.Leu1028TyrfsTer2 | |
| XM_011515753.1:c.2750del | XP_011514055.1:p.Leu917TyrfsTer2 | |
| XM_011515754.1:c.2750del | XP_011514056.1:p.Leu917TyrfsTer2 | |
| NM_000492.4:c.2993del MANE Select | NP_000483.3:p.Leu998TyrfsTer2 |