Linked Data
ClinVar Variation Id:
370726
dbSNP Id:
rs747985669
ExAC:
2:26416519 GC / G
gnomAD v2:
2-26416519-GC-G
gnomAD v4:
2-26193650-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26193653del , CM000664.2:g.26193653del | GRCh38 |
| NC_000002.11:g.26416522del , CM000664.1:g.26416522del | GRCh37 |
| NC_000002.10:g.26270026del | NCBI36 |
| NG_007121.1:g.55970del | |
| NG_007121.2:g.55971del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1811del (HADHA) MANE Select | ENSP00000370023.3:p.Gly604AlafsTer16 | |
| ENST00000492433.2:c.1811del (HADHA) | ENSP00000438039.2:p.Gly604AlafsTer16 | |
| ENST00000643057.1:c.*1702del (HADHA) | ENSP00000493761.1:n.*1702del | |
| ENST00000643063.1:c.*857del (HADHA) | ENSP00000495353.1:n.*857del | |
| ENST00000643233.1:c.*1702del (HADHA) | ENSP00000493880.1:n.*1702del | |
| ENST00000644428.1:c.*435del (HADHA) | ENSP00000495560.1:n.*435del | |
| ENST00000645274.1:c.1706del (HADHA) | ENSP00000493996.1:p.Gly569AlafsTer16 | |
| ENST00000646031.1:c.1170del (HADHA) | ||
| ENST00000646483.1:c.1677del (HADHA) | ENSP00000496185.1:n.1677del | |
| ENST00000380649.7:c.1811del (HADHA) | ENSP00000370023.3:p.Gly604AlafsTer16 | |
| ENST00000492433.1:c.269del (HADHA) | ENSP00000438039.1:p.Gly90AlafsTer16 | |
| NM_000182.4:c.1811del (HADHA) | NP_000173.2:p.Gly604AlafsTer16 | |
| XM_011532567.1:c.1683+6338del (GAREM2) | XP_011530869.1:n.1683+6338del | |
| XM_011532567.3:c.1683+6338del (GAREM2) | XP_011530869.1:n.1683+6338del | |
| NM_000182.5:c.1811del (HADHA) MANE Select | NP_000173.2:p.Gly604AlafsTer16 |