Linked Data
ClinVar Variation Id:
1538296
ClinVar RCV Id:
RCV002167187
dbSNP Id:
rs767103938
ExAC:
2:26414270 T / TTC
gnomAD v2:
2-26414270-T-TTC
gnomAD v4:
2-26191401-T-TTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26191401_26191402insTC , CM000664.2:g.26191401_26191402insTC | GRCh38 |
| NC_000002.11:g.26414270_26414271insTC , CM000664.1:g.26414270_26414271insTC | GRCh37 |
| NC_000002.10:g.26267774_26267775insTC | NCBI36 |
| NG_007121.1:g.58219_58220insGA | |
| NG_007121.2:g.58220_58221insGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.2147-7_2147-6insGA (HADHA) MANE Select | ENSP00000370023.3:n.2147-7_2147-6insGA | |
| ENST00000492433.2:c.2227_2228insGA (HADHA) | ENSP00000438039.2:p.Tyr743Ter | |
| ENST00000643057.1:c.*2118_*2119insGA (HADHA) | ENSP00000493761.1:n.*2118_*2119insGA | |
| ENST00000643063.1:c.*1193-7_*1193-6insGA (HADHA) | ENSP00000495353.1:n.*1193-7_*1193-6insGA | |
| ENST00000643233.1:c.*2038-7_*2038-6insGA (HADHA) | ENSP00000493880.1:n.*2038-7_*2038-6insGA | |
| ENST00000644428.1:c.*771-7_*771-6insGA (HADHA) | ENSP00000495560.1:n.*771-7_*771-6insGA | |
| ENST00000645274.1:c.2042-7_2042-6insGA (HADHA) | ENSP00000493996.1:n.2042-7_2042-6insGA | |
| ENST00000646031.1:c.1506-7_1506-6insGA (HADHA) | ||
| ENST00000646483.1:c.2013-7_2013-6insGA (HADHA) | ENSP00000496185.1:n.2013-7_2013-6insGA | |
| ENST00000380649.7:c.2147-7_2147-6insGA (HADHA) | ENSP00000370023.3:n.2147-7_2147-6insGA | |
| ENST00000492433.1:c.685_686insGA (HADHA) | ENSP00000438039.1:p.Tyr229Ter | |
| NM_000182.4:c.2147-7_2147-6insGA (HADHA) | NP_000173.2:n.2147-7_2147-6insGA | |
| XM_011532567.1:c.1683+4086_1683+4087insTC (GAREM2) | XP_011530869.1:n.1683+4086_1683+4087insTC | |
| XM_011532567.3:c.1683+4086_1683+4087insTC (GAREM2) | XP_011530869.1:n.1683+4086_1683+4087insTC | |
| NM_000182.5:c.2147-7_2147-6insGA (HADHA) MANE Select | NP_000173.2:n.2147-7_2147-6insGA |