Linked Data
ClinVar Variation Id:
1190796
ClinVar RCV Id:
RCV001551640
dbSNP Id:
rs1555601061
gnomAD v2:
17-73269841-A-ACTATT
gnomAD v3:
17-75273760-A-ACTATT
gnomAD v4:
17-75273760-A-ACTATT
MyVariant Identifiers:
chr17:g.73269841_73269842insCTATT (hg19)
chr17:g.75273760_75273761insCTATT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75273760_75273761insCTATT , CM000679.2:g.75273760_75273761insCTATT | GRCh38 |
| NC_000017.10:g.73269841_73269842insCTATT , CM000679.1:g.73269841_73269842insCTATT | GRCh37 |
| NC_000017.9:g.70781436_70781437insCTATT | NCBI36 |
| NG_008274.1:g.20689_20690insAATAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416858.7:c.775-122_775-121insAATAG (SLC25A19) MANE Select | ENSP00000397818.2:n.775-122_775-121insAATAG | |
| ENST00000320362.7:c.775-122_775-121insAATAG (SLC25A19) | ENSP00000319574.3:n.775-122_775-121insAATAG | |
| ENST00000375261.8:c.604-122_604-121insAATAG (SLC25A19) | ENSP00000364410.4:n.604-122_604-121insAATAG | |
| ENST00000402418.7:c.775-122_775-121insAATAG (SLC25A19) | ENSP00000385312.3:n.775-122_775-121insAATAG | |
| ENST00000416858.6:c.775-122_775-121insAATAG (SLC25A19) | ENSP00000397818.2:n.775-122_775-121insAATAG | |
| ENST00000442286.6:c.775-122_775-121insAATAG (SLC25A19) | ENSP00000402202.2:n.775-122_775-121insAATAG | |
| ENST00000580994.5:c.775-122_775-121insAATAG (SLC25A19) | ENSP00000463795.1:n.775-122_775-121insAATAG | |
| ENST00000582822.1:c.152-473_152-472insAATAG (SLC25A19) | ||
| ENST00000583332.5:c.460-122_460-121insAATAG (SLC25A19) | ENSP00000462214.1:n.460-122_460-121insAATAG | |
| NM_001126121.1:c.775-122_775-121insAATAG (SLC25A19) | NP_001119593.1:n.775-122_775-121insAATAG | |
| NM_001126122.1:c.775-122_775-121insAATAG (SLC25A19) | NP_001119594.1:n.775-122_775-121insAATAG | |
| NM_021734.4:c.775-122_775-121insAATAG (SLC25A19) | NP_068380.3:n.775-122_775-121insAATAG | |
| NR_036520.1:n.2462_2463insCTATT (MIF4GD-DT) | ||
| XM_005257559.2:c.775-122_775-121insAATAG (SLC25A19) | XP_005257616.1:n.775-122_775-121insAATAG | |
| XM_005257560.1:c.775-122_775-121insAATAG (SLC25A19) | XP_005257617.1:n.775-122_775-121insAATAG | |
| XM_005257561.2:c.775-122_775-121insAATAG (SLC25A19) | XP_005257618.1:n.775-122_775-121insAATAG | |
| XM_005257562.1:c.775-122_775-121insAATAG (SLC25A19) | XP_005257619.1:n.775-122_775-121insAATAG | |
| XM_006722007.1:c.775-122_775-121insAATAG (SLC25A19) | XP_006722070.1:n.775-122_775-121insAATAG | |
| XM_011525098.1:c.460-122_460-121insAATAG (SLC25A19) | XP_011523400.1:n.460-122_460-121insAATAG | |
| XM_005257559.4:c.775-122_775-121insAATAG (SLC25A19) | XP_005257616.1:n.775-122_775-121insAATAG | |
| XM_005257560.2:c.775-122_775-121insAATAG (SLC25A19) | XP_005257617.1:n.775-122_775-121insAATAG | |
| XM_005257561.4:c.775-122_775-121insAATAG (SLC25A19) | XP_005257618.1:n.775-122_775-121insAATAG | |
| XM_005257562.2:c.775-122_775-121insAATAG (SLC25A19) | XP_005257619.1:n.775-122_775-121insAATAG | |
| XM_006722007.2:c.775-122_775-121insAATAG (SLC25A19) | XP_006722070.1:n.775-122_775-121insAATAG | |
| XM_017024926.2:c.775-122_775-121insAATAG (SLC25A19) | XP_016880415.1:n.775-122_775-121insAATAG | |
| XM_017024927.2:c.472-122_472-121insAATAG (SLC25A19) | XP_016880416.1:n.472-122_472-121insAATAG | |
| XM_017024928.2:c.460-122_460-121insAATAG (SLC25A19) | XP_016880417.1:n.460-122_460-121insAATAG | |
| NM_001126121.2:c.775-122_775-121insAATAG (SLC25A19) MANE Select | NP_001119593.1:n.775-122_775-121insAATAG | |
| NM_001126122.2:c.775-122_775-121insAATAG (SLC25A19) | NP_001119594.1:n.775-122_775-121insAATAG | |
| NM_021734.5:c.775-122_775-121insAATAG (SLC25A19) | NP_068380.3:n.775-122_775-121insAATAG |