Linked Data
ClinVar Variation Id:
2937535
ClinVar RCV Id:
RCV003794165
gnomAD v4:
2-26192441-A-AAGGGAGTGTTACTATTTGTTCTCAGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26192467_26192493dup , CM000664.2:g.26192467_26192493dup | GRCh38 |
| NC_000002.11:g.26415336_26415362dup , CM000664.1:g.26415336_26415362dup | GRCh37 |
| NC_000002.10:g.26268840_26268866dup | NCBI36 |
| NG_007121.1:g.57153_57179dup | |
| NG_007121.2:g.57154_57180dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1886-44_1886-18dup (HADHA) MANE Select | ENSP00000370023.3:n.1886-44_1886-18dup | |
| ENST00000492433.2:c.1886-44_1886-18dup (HADHA) | ENSP00000438039.2:n.1886-44_1886-18dup | |
| ENST00000643057.1:c.*1777-44_*1777-18dup (HADHA) | ENSP00000493761.1:n.*1777-44_*1777-18dup | |
| ENST00000643063.1:c.*932-44_*932-18dup (HADHA) | ENSP00000495353.1:n.*932-44_*932-18dup | |
| ENST00000643233.1:c.*1777-44_*1777-18dup (HADHA) | ENSP00000493880.1:n.*1777-44_*1777-18dup | |
| ENST00000644428.1:c.*510-44_*510-18dup (HADHA) | ENSP00000495560.1:n.*510-44_*510-18dup | |
| ENST00000645274.1:c.1781-44_1781-18dup (HADHA) | ENSP00000493996.1:n.1781-44_1781-18dup | |
| ENST00000646031.1:c.1245-44_1245-18dup (HADHA) | ||
| ENST00000646483.1:c.1752-44_1752-18dup (HADHA) | ENSP00000496185.1:n.1752-44_1752-18dup | |
| ENST00000380649.7:c.1886-44_1886-18dup (HADHA) | ENSP00000370023.3:n.1886-44_1886-18dup | |
| ENST00000492433.1:c.344-44_344-18dup (HADHA) | ENSP00000438039.1:n.344-44_344-18dup | |
| NM_000182.4:c.1886-44_1886-18dup (HADHA) | NP_000173.2:n.1886-44_1886-18dup | |
| XM_011532567.1:c.1683+5152_1683+5178dup (GAREM2) | XP_011530869.1:n.1683+5152_1683+5178dup | |
| XM_011532567.3:c.1683+5152_1683+5178dup (GAREM2) | XP_011530869.1:n.1683+5152_1683+5178dup | |
| NM_000182.5:c.1886-44_1886-18dup (HADHA) MANE Select | NP_000173.2:n.1886-44_1886-18dup |