Linked Data
ClinVar Variation Id:
335366
dbSNP Id:
rs146500488
gnomAD v2:
2-26413653-GCA-G
gnomAD v3:
2-26190784-GCA-G
gnomAD v4:
2-26190784-GCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26190791_26190792del , CM000664.2:g.26190791_26190792del | GRCh38 |
| NC_000002.11:g.26413660_26413661del , CM000664.1:g.26413660_26413661del | GRCh37 |
| NC_000002.10:g.26267164_26267165del | NCBI36 |
| NG_007121.1:g.58835_58836del | |
| NG_007121.2:g.58836_58837del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.*464_*465del (HADHA) MANE Select | ENSP00000370023.3:n.*464_*465del | |
| ENST00000492433.2:c.*464_*465del (HADHA) | ENSP00000438039.2:n.*464_*465del | |
| ENST00000643057.1:c.*2734_*2735del (HADHA) | ENSP00000493761.1:n.*2734_*2735del | |
| ENST00000644428.1:c.*1380_*1381del (HADHA) | ENSP00000495560.1:n.*1380_*1381del | |
| ENST00000380649.7:c.*464_*465del (HADHA) | ENSP00000370023.3:n.*464_*465del | |
| NM_000182.4:c.*464_*465del (HADHA) | NP_000173.2:n.*464_*465del | |
| XM_011532567.1:c.1683+3476_1683+3477del (GAREM2) | XP_011530869.1:n.1683+3476_1683+3477del | |
| XM_011532567.3:c.1683+3476_1683+3477del (GAREM2) | XP_011530869.1:n.1683+3476_1683+3477del | |
| NM_000182.5:c.*464_*465del (HADHA) MANE Select | NP_000173.2:n.*464_*465del |