Linked Data
ClinVar Variation Id:
1069465
ClinVar RCV Id:
RCV001381333
dbSNP Id:
rs757671025
ExAC:
2:26415185 G / GACTT
gnomAD v2:
2-26415185-G-GACTT
gnomAD v4:
2-26192316-G-GACTT
MyVariant Identifiers:
chr2:g.26415185_26415186insACTT (hg19)
chr2:g.26192316_26192317insACTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26192318_26192321dup , CM000664.2:g.26192318_26192321dup | GRCh38 |
| NC_000002.11:g.26415187_26415190dup , CM000664.1:g.26415187_26415190dup | GRCh37 |
| NC_000002.10:g.26268691_26268694dup | NCBI36 |
| NG_007121.1:g.57301_57304dup | |
| NG_007121.2:g.57302_57305dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1990_1993dup (HADHA) MANE Select | ENSP00000370023.3:p.Ser665Ter | |
| ENST00000492433.2:c.1990_1993dup (HADHA) | ENSP00000438039.2:p.Ser665Ter | |
| ENST00000643057.1:c.*1881_*1884dup (HADHA) | ENSP00000493761.1:n.*1881_*1884dup | |
| ENST00000643063.1:c.*1036_*1039dup (HADHA) | ENSP00000495353.1:n.*1036_*1039dup | |
| ENST00000643233.1:c.*1881_*1884dup (HADHA) | ENSP00000493880.1:n.*1881_*1884dup | |
| ENST00000644428.1:c.*614_*617dup (HADHA) | ENSP00000495560.1:n.*614_*617dup | |
| ENST00000645274.1:c.1885_1888dup (HADHA) | ENSP00000493996.1:p.Ser630Ter | |
| ENST00000646031.1:c.1349_1352dup (HADHA) | ||
| ENST00000646483.1:c.1856_1859dup (HADHA) | ENSP00000496185.1:n.1856_1859dup | |
| ENST00000380649.7:c.1990_1993dup (HADHA) | ENSP00000370023.3:p.Ser665Ter | |
| ENST00000492433.1:c.448_451dup (HADHA) | ENSP00000438039.1:p.Ser151Ter | |
| NM_000182.4:c.1990_1993dup (HADHA) | NP_000173.2:p.Ser665Ter | |
| XM_011532567.1:c.1683+5003_1683+5006dup (GAREM2) | XP_011530869.1:n.1683+5003_1683+5006dup | |
| XM_011532567.3:c.1683+5003_1683+5006dup (GAREM2) | XP_011530869.1:n.1683+5003_1683+5006dup | |
| NM_000182.5:c.1990_1993dup (HADHA) MANE Select | NP_000173.2:p.Ser665Ter |