Linked Data
ClinVar Variation Id:
558276
dbSNP Id:
rs764557236
ExAC:
2:26417954 CCCTTA / C
gnomAD v2:
2-26417954-CCCTTA-C
gnomAD v4:
2-26195085-CCCTTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26195091_26195095del , CM000664.2:g.26195091_26195095del | GRCh38 |
| NC_000002.11:g.26417960_26417964del , CM000664.1:g.26417960_26417964del | GRCh37 |
| NC_000002.10:g.26271464_26271468del | NCBI36 |
| NG_007121.1:g.54531_54535del | |
| NG_007121.2:g.54532_54536del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1620+2_1620+6del (HADHA) | ||
| ENST00000492433.2:c.1620+2_1620+6del (HADHA) | ||
| ENST00000643057.1:c.*1511+2_*1511+6del (HADHA) | ||
| ENST00000643063.1:c.*666+2_*666+6del (HADHA) | ||
| ENST00000643233.1:c.*1511+2_*1511+6del (HADHA) | ||
| ENST00000644428.1:c.*244+2_*244+6del (HADHA) | ||
| ENST00000645274.1:c.1515+2_1515+6del (HADHA) | ||
| ENST00000646031.1:c.979+2_979+6del (HADHA) | ||
| ENST00000646483.1:c.1486+2_1486+6del (HADHA) | ||
| ENST00000380649.7:c.1620+2_1620+6del (HADHA) | ||
| ENST00000492433.1:c.78+2_78+6del (HADHA) | ||
| NM_000182.4:c.1620+2_1620+6del (HADHA) | ||
| XM_011532567.1:c.1684-7142_1684-7138del (GAREM2) | XP_011530869.1:n.1684-7142_1684-7138del | |
| XM_011532567.3:c.1684-7142_1684-7138del (GAREM2) | XP_011530869.1:n.1684-7142_1684-7138del | |
| NM_000182.5:c.1620+2_1620+6del (HADHA) |