Linked Data
ClinVar Variation Id:
461044
ClinVar RCV Id:
RCV000527467
RCV001356979
RCV001194734
RCV001783042
RCV000708605
RCV003335457
RCV004017667
RCV001559147
dbSNP Id:
rs774684620
gnomAD v2:
17-59761459-AT-A
gnomAD v4:
17-61684098-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61684104del , CM000679.2:g.61684104del | GRCh38 |
| NC_000017.10:g.59761465del , CM000679.1:g.59761465del | GRCh37 |
| NC_000017.9:g.57116247del | NCBI36 |
| NG_007409.2:g.184461del , LRG_300:g.184461del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.1687del | ||
| ENST00000682453.1:c.2947del | ENSP00000506943.1:p.Ile983LeufsTer2 | |
| ENST00000682477.1:c.*2373del | ENSP00000507075.1:n.*2373del | |
| ENST00000682589.1:n.8824del | ||
| ENST00000682755.1:c.2725del | ENSP00000507660.1:p.Ile909LeufsTer2 | |
| ENST00000682989.1:c.*38del | ENSP00000507786.1:n.*38del | |
| ENST00000683039.1:c.2947del | ENSP00000508303.1:p.Ile983LeufsTer2 | |
| ENST00000683235.1:c.*362del | ENSP00000507646.1:n.*362del | |
| ENST00000683535.1:n.1077del | ||
| ENST00000684584.1:c.2110del | ENSP00000508044.1:p.Ile704LeufsTer2 | |
| ENST00000684626.1:n.1193del | ||
| ENST00000684769.1:c.1137del | ENSP00000507691.1:n.1137del | |
| ENST00000259008.7:c.2947del MANE Select | ENSP00000259008.2:p.Ile983LeufsTer2 | |
| ENST00000259008.6:c.2947del | ENSP00000259008.2:p.Ile983LeufsTer2 | |
| NM_032043.2:c.2947del , LRG_300t1:c.2947del | NP_114432.2:p.Ile983LeufsTer2 | |
| XM_011525332.1:c.3007del | XP_011523634.1:p.Ile1003LeufsTer2 | |
| XM_011525333.1:c.3007del | XP_011523635.1:p.Ile1003LeufsTer2 | |
| XM_011525334.1:c.3007del | XP_011523636.1:p.Ile1003LeufsTer2 | |
| XM_011525335.1:c.2947del | XP_011523637.1:p.Ile983LeufsTer2 | |
| XM_011525336.1:c.2887del | XP_011523638.1:p.Ile963LeufsTer2 | |
| XM_011525337.1:c.2806del | XP_011523639.1:p.Ile936LeufsTer2 | |
| XM_011525338.1:c.2524del | XP_011523640.1:p.Ile842LeufsTer2 | |
| XM_011525332.3:c.3007del | XP_011523634.1:p.Ile1003LeufsTer2 | |
| XM_011525333.3:c.3007del | XP_011523635.1:p.Ile1003LeufsTer2 | |
| XM_011525334.2:c.3007del | XP_011523636.1:p.Ile1003LeufsTer2 | |
| XM_011525335.3:c.2947del | XP_011523637.1:p.Ile983LeufsTer2 | |
| XM_011525336.2:c.2887del | XP_011523638.1:p.Ile963LeufsTer2 | |
| XM_011525337.2:c.2806del | XP_011523639.1:p.Ile936LeufsTer2 | |
| XM_011525338.2:c.2524del | XP_011523640.1:p.Ile842LeufsTer2 | |
| XM_017025200.1:c.2464del | XP_016880689.1:p.Ile822LeufsTer2 | |
| XM_017025201.1:c.2464del | XP_016880690.1:p.Ile822LeufsTer2 | |
| XM_017025202.1:c.1093del | XP_016880691.1:p.Ile365LeufsTer2 | |
| XM_017025203.1:c.1093del | XP_016880692.1:p.Ile365LeufsTer2 | |
| NM_032043.3:c.2947del MANE Select | NP_114432.2:p.Ile983LeufsTer2 |