Linked Data
ClinVar Variation Id:
371895
ClinVar RCV Id:
RCV000411655
dbSNP Id:
rs767896771
ExAC:
10:89720911 C / CT
gnomAD v2:
10-89720911-C-CT
gnomAD v3:
10-87961154-C-CT
gnomAD v4:
10-87961154-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87961156dup , CM000672.2:g.87961156dup | GRCh38 |
| NC_000010.10:g.89720913dup , CM000672.1:g.89720913dup | GRCh37 |
| NC_000010.9:g.89710893dup | NCBI36 |
| NG_007466.2:g.102718dup , LRG_311:g.102718dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1119+38dup | ENSP00000514759.2:n.1119+38dup | |
| ENST00000710265.1:c.1026+38dup | ENSP00000518161.1:n.1026+38dup | |
| ENST00000472832.3:c.*29dup | ENSP00000483066.2:n.*29dup | |
| ENST00000688158.2:n.1761+38dup | ||
| ENST00000688922.2:c.*856+38dup | ENSP00000508742.2:n.*856+38dup | |
| ENST00000700021.1:c.981+38dup | ENSP00000514757.1:n.981+38dup | |
| ENST00000700022.1:c.*365+38dup | ENSP00000514758.1:n.*365+38dup | |
| ENST00000700023.1:n.2184+38dup | ||
| ENST00000700024.1:n.2418+38dup | ||
| ENST00000700025.1:n.1833dup | ||
| ENST00000700026.1:n.701dup | ||
| ENST00000706954.1:c.1026+38dup | ENSP00000516674.1:n.1026+38dup | |
| ENST00000706955.1:c.*1061+38dup | ENSP00000516675.1:n.*1061+38dup | |
| ENST00000686459.1:c.*612+38dup | ENSP00000508909.1:n.*612+38dup | |
| ENST00000688158.1:c.*1137+38dup | ENSP00000509254.1:n.*1137+38dup | |
| ENST00000688308.1:c.1026+38dup | ENSP00000508752.1:n.1026+38dup | |
| ENST00000688922.1:c.947+38dup | ||
| ENST00000693560.1:c.1545+38dup | ENSP00000509861.1:n.1545+38dup | |
| ENST00000371953.8:c.1026+38dup MANE Select | ENSP00000361021.3:n.1026+38dup | |
| ENST00000371953.7:c.1026+38dup | ENSP00000361021.3:n.1026+38dup | |
| ENST00000472832.2:c.491dup | ENSP00000483066.1:n.491dup | |
| NM_000314.5:c.1026+38dup | NP_000305.3:n.1026+38dup | |
| NM_000314.6:c.1026+38dup | NP_000305.3:n.1026+38dup | |
| NM_001304717.2:c.1545+38dup | NP_001291646.2:n.1545+38dup | |
| NM_001304718.1:c.435+38dup | NP_001291647.1:n.435+38dup | |
| XM_006717926.2:c.981+38dup | XP_006717989.1:n.981+38dup | |
| XM_011539981.1:c.1026+38dup | XP_011538283.1:n.1026+38dup | |
| XM_011539982.1:c.930+38dup | XP_011538284.1:n.930+38dup | |
| XR_945791.1:n.1596+38dup | ||
| NM_000314.7:c.1026+38dup | NP_000305.3:n.1026+38dup | |
| NM_001304717.5:c.1545+38dup | NP_001291646.4:n.1545+38dup | |
| NM_001304718.2:c.435+38dup | NP_001291647.1:n.435+38dup | |
| NM_000314.8:c.1026+38dup MANE Select | NP_000305.3:n.1026+38dup |