Linked Data
dbSNP Id:
rs1016337898
gnomAD v2:
2-26417728-AC-A
gnomAD v3:
2-26194859-AC-A
gnomAD v4:
2-26194859-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26194861del , CM000664.2:g.26194861del | GRCh38 |
| NC_000002.11:g.26417730del , CM000664.1:g.26417730del | GRCh37 |
| NC_000002.10:g.26271234del | NCBI36 |
| NG_007121.1:g.54761del | |
| NG_007121.2:g.54762del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1621-222del (HADHA) MANE Select | ENSP00000370023.3:n.1621-222del | |
| ENST00000492433.2:c.1621-222del (HADHA) | ENSP00000438039.2:n.1621-222del | |
| ENST00000643057.1:c.*1512-222del (HADHA) | ENSP00000493761.1:n.*1512-222del | |
| ENST00000643063.1:c.*667-222del (HADHA) | ENSP00000495353.1:n.*667-222del | |
| ENST00000643233.1:c.*1512-222del (HADHA) | ENSP00000493880.1:n.*1512-222del | |
| ENST00000644428.1:c.*245-222del (HADHA) | ENSP00000495560.1:n.*245-222del | |
| ENST00000645274.1:c.1516-222del (HADHA) | ENSP00000493996.1:n.1516-222del | |
| ENST00000646031.1:c.980-222del (HADHA) | ||
| ENST00000646483.1:c.1487-222del (HADHA) | ENSP00000496185.1:n.1487-222del | |
| ENST00000380649.7:c.1621-222del (HADHA) | ENSP00000370023.3:n.1621-222del | |
| ENST00000492433.1:c.79-222del (HADHA) | ENSP00000438039.1:n.79-222del | |
| NM_000182.4:c.1621-222del (HADHA) | NP_000173.2:n.1621-222del | |
| XM_011532567.1:c.1684-7372del (GAREM2) | XP_011530869.1:n.1684-7372del | |
| XM_011532567.3:c.1684-7372del (GAREM2) | XP_011530869.1:n.1684-7372del | |
| NM_000182.5:c.1621-222del (HADHA) MANE Select | NP_000173.2:n.1621-222del |