Linked Data
ClinVar Variation Id:
1404290
ClinVar RCV Id:
RCV001901577
dbSNP Id:
rs2126703106
gnomAD v4:
5-119478985-G-GCGGGATCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119478989_119478996dup , CM000667.2:g.119478989_119478996dup | GRCh38 |
| NC_000005.9:g.118814684_118814691dup , CM000667.1:g.118814684_118814691dup | GRCh37 |
| NC_000005.8:g.118842583_118842590dup | NCBI36 |
| NG_008182.1:g.31537_31544dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.590_597dup | ENSP00000426272.2:p.Met200AspfsTer4 | |
| ENST00000518349.6:c.113-17554_113-17547dup | ENSP00000507185.1:n.113-17554_113-17547dup | |
| ENST00000682445.1:c.*471_*478dup | ENSP00000508061.1:n.*471_*478dup | |
| ENST00000682531.1:n.691_698dup | ||
| ENST00000682626.1:c.*96_*103dup | ENSP00000507857.1:n.*96_*103dup | |
| ENST00000682996.1:c.590_597dup | ENSP00000507792.1:p.Met200AspfsTer4 | |
| ENST00000683265.1:n.683_690dup | ||
| ENST00000683371.1:c.*720_*727dup | ENSP00000508376.1:n.*720_*727dup | |
| ENST00000683390.1:n.2280_2287dup | ||
| ENST00000683549.1:n.511_518dup | ||
| ENST00000683936.1:c.*475_*482dup | ENSP00000507721.1:n.*475_*482dup | |
| ENST00000683974.1:n.672_679dup | ||
| ENST00000683996.1:c.179_186dup | ENSP00000507060.1:p.Met63AspfsTer4 | |
| ENST00000684131.1:n.429_436dup | ||
| ENST00000684160.1:c.*280_*287dup | ENSP00000507821.1:n.*280_*287dup | |
| ENST00000684214.1:c.590_597dup | ENSP00000508071.1:p.Met200AspfsTer4 | |
| ENST00000414835.7:c.665_672dup | ENSP00000411960.3:p.Met225AspfsTer4 | |
| ENST00000510025.7:c.590_597dup MANE Select | ENSP00000424940.3:p.Met200AspfsTer4 | |
| ENST00000643250.1:c.*462_*469dup | ENSP00000494737.1:n.*462_*469dup | |
| ENST00000644146.1:c.*168_*175dup | ENSP00000494808.1:n.*168_*175dup | |
| ENST00000645099.1:c.149_156dup | ENSP00000496091.1:p.Met53AspfsTer4 | |
| ENST00000645702.1:c.179_186dup | ENSP00000496432.1:p.Met63AspfsTer4 | |
| ENST00000645832.1:c.*475_*482dup | ENSP00000494316.1:n.*475_*482dup | |
| ENST00000646058.1:c.590_597dup | ENSP00000493579.1:p.Met200AspfsTer4 | |
| ENST00000646355.1:c.*596_*603dup | ENSP00000493801.1:n.*596_*603dup | |
| ENST00000646554.1:c.*568_*575dup | ENSP00000494542.1:n.*568_*575dup | |
| ENST00000647335.1:c.*557_*564dup | ENSP00000495180.1:n.*557_*564dup | |
| ENST00000647342.1:c.*521_*528dup | ENSP00000494992.1:n.*521_*528dup | |
| ENST00000256216.10:c.590_597dup | ENSP00000256216.6:p.Met200AspfsTer4 | |
| ENST00000414835.6:c.170_177dup | ENSP00000411960.2:p.Met60AspfsTer4 | |
| ENST00000442060.7:c.590_597dup | ENSP00000390208.3:p.Met200AspfsTer4 | |
| ENST00000503168.5:n.579_586dup | ||
| ENST00000504811.5:c.665_672dup | ENSP00000420914.1:p.Met225AspfsTer4 | |
| ENST00000505181.5:n.293_300dup | ||
| ENST00000509514.5:c.-295_-288dup | ENSP00000426272.1:n.-295_-288dup | |
| ENST00000510025.5:c.518_525dup | ENSP00000424940.1:p.Met176AspfsTer4 | |
| ENST00000512644.1:n.158_165dup | ||
| ENST00000513628.5:c.179_186dup | ENSP00000425993.1:p.Met63AspfsTer4 | |
| ENST00000515235.6:n.650_657dup | ||
| ENST00000515320.5:c.536_543dup | ENSP00000424613.1:p.Met182AspfsTer4 | |
| NM_000414.3:c.590_597dup | NP_000405.1:p.Met200AspfsTer4 | |
| NM_001199291.2:c.665_672dup | NP_001186220.1:p.Met225AspfsTer4 | |
| NM_001199292.1:c.536_543dup | NP_001186221.1:p.Met182AspfsTer4 | |
| NM_001292027.1:c.518_525dup | NP_001278956.1:p.Met176AspfsTer4 | |
| NM_001292028.1:c.170_177dup | NP_001278957.1:p.Met60AspfsTer4 | |
| NM_000414.4:c.590_597dup MANE Select | NP_000405.1:p.Met200AspfsTer4 | |
| NM_001199291.3:c.665_672dup | NP_001186220.1:p.Met225AspfsTer4 | |
| NM_001199292.2:c.536_543dup | NP_001186221.1:p.Met182AspfsTer4 | |
| NM_001292027.2:c.518_525dup | NP_001278956.1:p.Met176AspfsTer4 | |
| NM_001292028.2:c.170_177dup | NP_001278957.1:p.Met60AspfsTer4 | |
| NM_001374497.1:c.581_588dup | NP_001361426.1:p.Met197AspfsTer4 | |
| NM_001374498.1:c.590_597dup | NP_001361427.1:p.Met200AspfsTer4 | |
| NM_001374499.1:c.263_270dup | NP_001361428.1:p.Met91AspfsTer4 | |
| NM_001374500.1:c.149_156dup | NP_001361429.1:p.Met53AspfsTer4 | |
| NM_001374501.1:c.179_186dup | NP_001361430.1:p.Met63AspfsTer4 | |
| NM_001374502.1:c.179_186dup | NP_001361431.1:p.Met63AspfsTer4 | |
| NM_001374503.1:c.179_186dup | NP_001361432.1:p.Met63AspfsTer4 | |
| NR_164653.1:n.669_676dup | ||
| NR_164654.1:n.857_864dup |