MyVariant.info:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117592153_117592156del , CM000669.2:g.117592153_117592156del | GRCh38 |
| NC_000007.13:g.117232207_117232210del , CM000669.1:g.117232207_117232210del | GRCh37 |
| NC_000007.12:g.117019443_117019446del | NCBI36 |
| NG_016465.4:g.131370_131373del , LRG_663:g.131370_131373del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.1986_1989del | ENSP00000497673.2:p.Thr663ArgfsTer8 | |
| ENST00000647978.2:c.*1700_*1703del | ENSP00000497658.1:n.*1700_*1703del | |
| ENST00000649781.2:c.1803_1806del | ENSP00000497203.1:p.Thr602ArgfsTer8 | |
| ENST00000685018.2:c.1986_1989del | ENSP00000510194.2:p.Thr663ArgfsTer8 | |
| ENST00000687278.2:c.1986_1989del | ENSP00000509593.2:p.Thr663ArgfsTer8 | |
| ENST00000699585.1:c.1986_1989del | ENSP00000514456.1:p.Thr663ArgfsTer8 | |
| ENST00000699598.1:c.1986_1989del | ENSP00000514467.1:p.Thr663ArgfsTer8 | |
| ENST00000699599.1:c.1986_1989del | ENSP00000514468.1:p.Thr663ArgfsTer8 | |
| ENST00000699600.1:c.1986_1989del | ENSP00000514469.1:p.Thr663ArgfsTer8 | |
| ENST00000699601.1:c.*286_*289del | ENSP00000514470.1:n.*286_*289del | |
| ENST00000699602.1:c.1986_1989del | ENSP00000514471.1:p.Thr663ArgfsTer8 | |
| ENST00000699604.1:c.*1810_*1813del | ENSP00000514472.1:n.*1810_*1813del | |
| ENST00000699605.1:c.1560_1563del | ENSP00000514473.1:p.Thr521ArgfsTer8 | |
| ENST00000003084.11:c.1986_1989del MANE Select | ENSP00000003084.6:p.Thr663ArgfsTer8 | |
| ENST00000647978.1:c.*1700_*1703del | ENSP00000497658.1:n.*1700_*1703del | |
| ENST00000648260.1:c.1402-10673_1402-10670del | ENSP00000497957.1:n.1402-10673_1402-10670del | |
| ENST00000649406.1:c.1803_1806del | ENSP00000497965.1:p.Thr602ArgfsTer8 | |
| ENST00000649781.1:c.1803_1806del | ENSP00000497203.1:p.Thr602ArgfsTer8 | |
| ENST00000003084.10:c.1986_1989del | ENSP00000003084.6:p.Thr663ArgfsTer8 | |
| ENST00000426809.5:c.1896_1899del | ENSP00000389119.1:p.Thr633ArgfsTer8 | |
| NM_000492.3:c.1986_1989del , LRG_663t1:c.1986_1989del | NP_000483.3:p.Thr663ArgfsTer8 | |
| XM_011515751.1:c.2076_2079del | XP_011514053.1:p.Thr693ArgfsTer8 | |
| XM_011515752.1:c.2076_2079del | XP_011514054.1:p.Thr693ArgfsTer8 | |
| XM_011515753.1:c.1743_1746del | XP_011514055.1:p.Thr582ArgfsTer8 | |
| XM_011515754.1:c.1743_1746del | XP_011514056.1:p.Thr582ArgfsTer8 | |
| NM_000492.4:c.1986_1989del MANE Select | NP_000483.3:p.Thr663ArgfsTer8 |