Linked Data
ClinVar Variation Id:
233221
ClinVar RCV Id:
RCV000218130
dbSNP Id:
rs876660269
gnomAD v4:
11-94445850-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94445853dup , CM000673.2:g.94445853dup | GRCh38 |
| NC_000011.9:g.94179019dup , CM000673.1:g.94179019dup | GRCh37 |
| NC_000011.8:g.93818667dup | NCBI36 |
| NG_007261.1:g.53024dup , LRG_85:g.53024dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323929.8:c.1826dup MANE Select | ENSP00000325863.4:p.Thr610AspfsTer7 | |
| ENST00000323929.7:c.1826dup | ENSP00000325863.3:p.Thr610AspfsTer7 | |
| ENST00000323977.7:c.1783+1368dup | ENSP00000326094.3:n.1783+1368dup | |
| ENST00000393241.8:c.1823dup | ENSP00000376933.4:p.Thr609AspfsTer7 | |
| ENST00000407439.7:c.1835dup | ENSP00000385614.3:p.Thr613AspfsTer7 | |
| ENST00000535120.1:n.122dup | ||
| NM_005590.3:c.1783+1368dup | NP_005581.2:n.1783+1368dup | |
| NM_005591.3:c.1826dup , LRG_85t1:c.1826dup | NP_005582.1:p.Thr610AspfsTer7 | |
| XM_005274008.2:c.1358dup | XP_005274065.1:p.Thr454AspfsTer7 | |
| XM_006718842.2:c.1823dup | XP_006718905.1:p.Thr609AspfsTer7 | |
| XM_011542837.1:c.1826dup | XP_011541139.1:p.Thr610AspfsTer7 | |
| XR_947828.1:n.2122dup | ||
| NM_001330347.1:c.1823dup | NP_001317276.1:p.Thr609AspfsTer7 | |
| XM_005274008.3:c.1358dup | XP_005274065.1:p.Thr454AspfsTer7 | |
| XM_006718842.3:c.1823dup | XP_006718905.1:p.Thr609AspfsTer7 | |
| XM_011542837.2:c.1826dup | XP_011541139.1:p.Thr610AspfsTer7 | |
| XM_017017772.1:c.1826dup | XP_016873261.1:p.Thr610AspfsTer7 | |
| XR_947828.2:n.2122dup | ||
| NM_001330347.2:c.1823dup | NP_001317276.1:p.Thr609AspfsTer7 | |
| NM_005590.4:c.1783+1368dup | NP_005581.2:n.1783+1368dup | |
| NM_005591.4:c.1826dup MANE Select | NP_005582.1:p.Thr610AspfsTer7 |