Linked Data
dbSNP Id:
rs986817870
gnomAD v2:
2-26414052-CTG-C
gnomAD v3:
2-26191183-CTG-C
gnomAD v4:
2-26191183-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26191185_26191186del , CM000664.2:g.26191185_26191186del | GRCh38 |
| NC_000002.11:g.26414054_26414055del , CM000664.1:g.26414054_26414055del | GRCh37 |
| NC_000002.10:g.26267558_26267559del | NCBI36 |
| NG_007121.1:g.58436_58437del | |
| NG_007121.2:g.58437_58438del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.*65_*66del (HADHA) MANE Select | ENSP00000370023.3:n.*65_*66del | |
| ENST00000492433.2:c.*65_*66del (HADHA) | ENSP00000438039.2:n.*65_*66del | |
| ENST00000643057.1:c.*2335_*2336del (HADHA) | ENSP00000493761.1:n.*2335_*2336del | |
| ENST00000643063.1:c.*1403_*1404del (HADHA) | ENSP00000495353.1:n.*1403_*1404del | |
| ENST00000643233.1:c.*2248_*2249del (HADHA) | ENSP00000493880.1:n.*2248_*2249del | |
| ENST00000644428.1:c.*981_*982del (HADHA) | ENSP00000495560.1:n.*981_*982del | |
| ENST00000645274.1:c.*65_*66del (HADHA) | ENSP00000493996.1:n.*65_*66del | |
| ENST00000646031.1:c.1716_1717del (HADHA) | ||
| ENST00000380649.7:c.*65_*66del (HADHA) | ENSP00000370023.3:n.*65_*66del | |
| NM_000182.4:c.*65_*66del (HADHA) | NP_000173.2:n.*65_*66del | |
| XM_011532567.1:c.1683+3870_1683+3871del (GAREM2) | XP_011530869.1:n.1683+3870_1683+3871del | |
| XM_011532567.3:c.1683+3870_1683+3871del (GAREM2) | XP_011530869.1:n.1683+3870_1683+3871del | |
| NM_000182.5:c.*65_*66del (HADHA) MANE Select | NP_000173.2:n.*65_*66del |