Linked Data
ClinVar Variation Id:
2065825
dbSNP Id:
rs532140719
ExAC:
19:5679412 GAA / G
gnomAD v2:
19-5679412-GAA-G
gnomAD v3:
19-5679401-GAA-G
gnomAD v4:
19-5679401-GAA-G
MyVariant Identifiers:
chr19:g.5679413_5679414del (hg19)
chr19:g.5679403_5679404del (hg38)
chr19:g.5679402_5679403del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.5679405_5679406del , CM000681.2:g.5679405_5679406del | GRCh38 |
| NC_000019.9:g.5679416_5679417del , CM000681.1:g.5679416_5679417del | GRCh37 |
| NC_000019.8:g.5630416_5630417del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309324.9:c.208-7_208-6del (MICOS13) MANE Select | ENSP00000309561.3:n.208-7_208-6del | |
| ENST00000309324.8:c.208-7_208-6del (MICOS13) | ENSP00000309561.3:n.208-7_208-6del | |
| ENST00000579649.5:c.-60+4433_-60+4434del (RPL36) | ENSP00000462609.1:n.-60+4433_-60+4434del | |
| ENST00000585605.1:n.179-7_179-6del (MICOS13) | ||
| ENST00000587589.1:c.208-7_208-6del (MICOS13) | ENSP00000464857.1:n.208-7_208-6del | |
| ENST00000587950.5:c.274-7_274-6del (MICOS13) | ENSP00000468723.1:n.274-7_274-6del | |
| ENST00000590075.1:n.414_415del (MICOS13) | ||
| ENST00000590389.5:c.274-7_274-6del (MICOS13) | ENSP00000465739.1:n.274-7_274-6del | |
| NM_001308240.1:c.274-7_274-6del (MICOS13) | NP_001295169.1:n.274-7_274-6del | |
| NM_205767.1:c.208-7_208-6del (MICOS13) | NP_991330.1:n.208-7_208-6del | |
| NM_205767.2:c.208-7_208-6del (MICOS13) | NP_991330.1:n.208-7_208-6del | |
| XM_011527675.1:c.274-7_274-6del (MICOS13) | XP_011525977.1:n.274-7_274-6del | |
| NM_001365761.1:c.274-7_274-6del (MICOS13) | NP_001352690.1:n.274-7_274-6del | |
| XM_011527675.2:c.274-7_274-6del (MICOS13) | XP_011525977.1:n.274-7_274-6del | |
| NM_001308240.2:c.274-7_274-6del (MICOS13) | NP_001295169.1:n.274-7_274-6del | |
| NM_001365761.2:c.274-7_274-6del (MICOS13) | NP_001352690.1:n.274-7_274-6del | |
| NM_205767.3:c.208-7_208-6del (MICOS13) MANE Select | NP_991330.1:n.208-7_208-6del |