Linked Data
ClinVar Variation Id:
324348
ClinVar RCV Id:
RCV000398289
RCV000576538
RCV000579524
RCV000657450
RCV001030465
RCV001063687
RCV003316484
RCV001844126
RCV003168480
dbSNP Id:
rs779741278
ExAC:
17:59761166 C / CA
gnomAD v2:
17-59761166-C-CA
gnomAD v3:
17-61683805-C-CA
gnomAD v4:
17-61683805-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683806dup , CM000679.2:g.61683806dup | GRCh38 |
| NC_000017.10:g.59761167dup , CM000679.1:g.59761167dup | GRCh37 |
| NC_000017.9:g.57115949dup | NCBI36 |
| NG_007409.2:g.184754dup , LRG_300:g.184754dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.1980dup | ||
| ENST00000682453.1:c.3240dup | ENSP00000506943.1:p.Ala1081CysfsTer5 | |
| ENST00000682477.1:c.*2666dup | ENSP00000507075.1:n.*2666dup | |
| ENST00000682589.1:n.9117dup | ||
| ENST00000682755.1:c.3018dup | ENSP00000507660.1:p.Ala1007CysfsTer5 | |
| ENST00000682989.1:c.*331dup | ENSP00000507786.1:n.*331dup | |
| ENST00000683039.1:c.3240dup | ENSP00000508303.1:p.Ala1081CysfsTer5 | |
| ENST00000683235.1:c.*655dup | ENSP00000507646.1:n.*655dup | |
| ENST00000683535.1:n.1370dup | ||
| ENST00000684584.1:c.2403dup | ENSP00000508044.1:p.Ala802CysfsTer5 | |
| ENST00000684626.1:n.1486dup | ||
| ENST00000684769.1:c.1430dup | ENSP00000507691.1:n.1430dup | |
| ENST00000259008.7:c.3240dup MANE Select | ENSP00000259008.2:p.Ala1081CysfsTer5 | |
| ENST00000259008.6:c.3240dup | ENSP00000259008.2:p.Ala1081CysfsTer5 | |
| NM_032043.2:c.3240dup , LRG_300t1:c.3240dup | NP_114432.2:p.Ala1081CysfsTer5 | |
| XM_011525332.1:c.3300dup | XP_011523634.1:p.Ala1101CysfsTer5 | |
| XM_011525333.1:c.3300dup | XP_011523635.1:p.Ala1101CysfsTer5 | |
| XM_011525334.1:c.3300dup | XP_011523636.1:p.Ala1101CysfsTer5 | |
| XM_011525335.1:c.3240dup | XP_011523637.1:p.Ala1081CysfsTer5 | |
| XM_011525336.1:c.3180dup | XP_011523638.1:p.Ala1061CysfsTer5 | |
| XM_011525337.1:c.3099dup | XP_011523639.1:p.Ala1034CysfsTer5 | |
| XM_011525338.1:c.2817dup | XP_011523640.1:p.Ala940CysfsTer5 | |
| XM_011525332.3:c.3300dup | XP_011523634.1:p.Ala1101CysfsTer5 | |
| XM_011525333.3:c.3300dup | XP_011523635.1:p.Ala1101CysfsTer5 | |
| XM_011525334.2:c.3300dup | XP_011523636.1:p.Ala1101CysfsTer5 | |
| XM_011525335.3:c.3240dup | XP_011523637.1:p.Ala1081CysfsTer5 | |
| XM_011525336.2:c.3180dup | XP_011523638.1:p.Ala1061CysfsTer5 | |
| XM_011525337.2:c.3099dup | XP_011523639.1:p.Ala1034CysfsTer5 | |
| XM_011525338.2:c.2817dup | XP_011523640.1:p.Ala940CysfsTer5 | |
| XM_017025200.1:c.2757dup | XP_016880689.1:p.Ala920CysfsTer5 | |
| XM_017025201.1:c.2757dup | XP_016880690.1:p.Ala920CysfsTer5 | |
| XM_017025202.1:c.1386dup | XP_016880691.1:p.Ala463CysfsTer5 | |
| XM_017025203.1:c.1386dup | XP_016880692.1:p.Ala463CysfsTer5 | |
| NM_032043.3:c.3240dup MANE Select | NP_114432.2:p.Ala1081CysfsTer5 |