Linked Data
ClinVar Variation Id:
1470676
ClinVar RCV Id:
RCV001964294
dbSNP Id:
rs1397675423
gnomAD v2:
15-89876845-C-CTGT
gnomAD v3:
15-89333614-C-CTGT
gnomAD v4:
15-89333614-C-CTGT
MyVariant Identifiers:
chr15:g.89876845_89876846insTGT (hg19)
chr15:g.89333614_89333615insTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89333616_89333617insTTG , CM000677.2:g.89333616_89333617insTTG | GRCh38 |
| NC_000015.9:g.89876847_89876848insTTG , CM000677.1:g.89876847_89876848insTTG | GRCh37 |
| NC_000015.8:g.87677851_87677852insTTG | NCBI36 |
| NG_008218.1:g.6181_6182insACA | |
| NG_008218.2:g.6181_6182insACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.140_141insACA (POLG) | ENSP00000516154.1:p.Gln47_Gln48insGln | |
| ENST00000706918.1:c.195_196insACA (POLGARF) | ENSP00000516626.1:p.Ala65_Ala66insThr | |
| ENST00000268124.11:c.140_141insACA (POLG) MANE Select | ENSP00000268124.5:p.Gln47_Gln48insGln | |
| ENST00000635986.2:c.140_141insACA (POLG) | ENSP00000490653.2:p.Gln47_Gln48insGln | |
| ENST00000636774.1:c.140_141insACA (POLG) | ENSP00000489799.1:p.Gln47_Gln48insGln | |
| ENST00000650303.2:c.195_196insACA (POLG) | ENSP00000497242.2:p.Ala65_Ala66insThr | |
| ENST00000672071.1:n.338_339insACA (POLG) | ||
| ENST00000268124.9:c.140_141insACA (POLG) | ENSP00000268124.5:p.Gln47_Gln48insGln | |
| ENST00000442287.6:c.140_141insACA (POLG) | ENSP00000399851.2:p.Gln47_Gln48insGln | |
| ENST00000631044.2:c.140_141insACA (POLG) | ENSP00000486730.1:p.Gln47_Gln48insGln | |
| NM_001126131.1:c.140_141insACA (POLG) | NP_001119603.1:p.Gln47_Gln48insGln | |
| NM_002693.2:c.140_141insACA (POLG) | NP_002684.1:p.Gln47_Gln48insGln | |
| NM_001126131.2:c.140_141insACA (POLG) | NP_001119603.1:p.Gln47_Gln48insGln | |
| NM_002693.3:c.140_141insACA (POLG) MANE Select | NP_002684.1:p.Gln47_Gln48insGln |