Linked Data
ClinVar Variation Id:
2680337
ClinVar RCV Id:
RCV003474444
dbSNP Id:
rs773433456
ExAC:
17:59761320 AC / A
gnomAD v2:
17-59761320-AC-A
gnomAD v4:
17-61683959-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683960del , CM000679.2:g.61683960del | GRCh38 |
| NC_000017.10:g.59761321del , CM000679.1:g.59761321del | GRCh37 |
| NC_000017.9:g.57116103del | NCBI36 |
| NG_007409.2:g.184600del , LRG_300:g.184600del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.1826del | ||
| ENST00000682453.1:c.3086del | ENSP00000506943.1:p.Ser1029MetfsTer30 | |
| ENST00000682477.1:c.*2512del | ENSP00000507075.1:n.*2512del | |
| ENST00000682589.1:n.8963del | ||
| ENST00000682755.1:c.2864del | ENSP00000507660.1:p.Ser955MetfsTer30 | |
| ENST00000682989.1:c.*177del | ENSP00000507786.1:n.*177del | |
| ENST00000683039.1:c.3086del | ENSP00000508303.1:p.Ser1029MetfsTer30 | |
| ENST00000683235.1:c.*501del | ENSP00000507646.1:n.*501del | |
| ENST00000683535.1:n.1216del | ||
| ENST00000684584.1:c.2249del | ENSP00000508044.1:p.Ser750MetfsTer30 | |
| ENST00000684626.1:n.1332del | ||
| ENST00000684769.1:c.1276del | ENSP00000507691.1:n.1276del | |
| ENST00000259008.7:c.3086del MANE Select | ENSP00000259008.2:p.Ser1029MetfsTer30 | |
| ENST00000259008.6:c.3086del | ENSP00000259008.2:p.Ser1029MetfsTer30 | |
| NM_032043.2:c.3086del , LRG_300t1:c.3086del | NP_114432.2:p.Ser1029MetfsTer30 | |
| XM_011525332.1:c.3146del | XP_011523634.1:p.Ser1049MetfsTer30 | |
| XM_011525333.1:c.3146del | XP_011523635.1:p.Ser1049MetfsTer30 | |
| XM_011525334.1:c.3146del | XP_011523636.1:p.Ser1049MetfsTer30 | |
| XM_011525335.1:c.3086del | XP_011523637.1:p.Ser1029MetfsTer30 | |
| XM_011525336.1:c.3026del | XP_011523638.1:p.Ser1009MetfsTer30 | |
| XM_011525337.1:c.2945del | XP_011523639.1:p.Ser982MetfsTer30 | |
| XM_011525338.1:c.2663del | XP_011523640.1:p.Ser888MetfsTer30 | |
| XM_011525332.3:c.3146del | XP_011523634.1:p.Ser1049MetfsTer30 | |
| XM_011525333.3:c.3146del | XP_011523635.1:p.Ser1049MetfsTer30 | |
| XM_011525334.2:c.3146del | XP_011523636.1:p.Ser1049MetfsTer30 | |
| XM_011525335.3:c.3086del | XP_011523637.1:p.Ser1029MetfsTer30 | |
| XM_011525336.2:c.3026del | XP_011523638.1:p.Ser1009MetfsTer30 | |
| XM_011525337.2:c.2945del | XP_011523639.1:p.Ser982MetfsTer30 | |
| XM_011525338.2:c.2663del | XP_011523640.1:p.Ser888MetfsTer30 | |
| XM_017025200.1:c.2603del | XP_016880689.1:p.Ser868MetfsTer30 | |
| XM_017025201.1:c.2603del | XP_016880690.1:p.Ser868MetfsTer30 | |
| XM_017025202.1:c.1232del | XP_016880691.1:p.Ser411MetfsTer30 | |
| XM_017025203.1:c.1232del | XP_016880692.1:p.Ser411MetfsTer30 | |
| NM_032043.3:c.3086del MANE Select | NP_114432.2:p.Ser1029MetfsTer30 |