Linked Data
ClinVar Variation Id:
762188
ClinVar RCV Id:
RCV001466754
dbSNP Id:
rs1555454334
gnomAD v4:
15-89333596-T-TTGCTGTTGC
MyVariant Identifiers:
chr15:g.89876827_89876828insTGCTGTTGC (hg19)
chr15:g.89333596_89333597insTGCTGTTGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89333601_89333602insTTGCTGCTG , CM000677.2:g.89333601_89333602insTTGCTGCTG | GRCh38 |
| NC_000015.9:g.89876832_89876833insTTGCTGCTG , CM000677.1:g.89876832_89876833insTTGCTGCTG | GRCh37 |
| NC_000015.8:g.87677836_87677837insTTGCTGCTG | NCBI36 |
| NG_008218.1:g.6199_6200insGCAACAGCA | |
| NG_008218.2:g.6199_6200insGCAACAGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.158_159insGCAACAGCA (POLG) | ENSP00000516154.1:p.Gln53_Gln54insGlnGlnGln | |
| ENST00000706918.1:c.213_214insGCAACAGCA (POLGARF) | ENSP00000516626.1:p.Ala71_Thr72insAlaThrAla | |
| ENST00000268124.11:c.158_159insGCAACAGCA (POLG) MANE Select | ENSP00000268124.5:p.Gln53_Gln54insGlnGlnGln | |
| ENST00000635986.2:c.158_159insGCAACAGCA (POLG) | ENSP00000490653.2:p.Gln53_Gln54insGlnGlnGln | |
| ENST00000636774.1:c.158_159insGCAACAGCA (POLG) | ENSP00000489799.1:p.Gln53_Gln54insGlnGlnGln | |
| ENST00000650303.2:c.213_214insGCAACAGCA (POLG) | ENSP00000497242.2:p.Ala71_Thr72insAlaThrAla | |
| ENST00000672071.1:n.356_357insGCAACAGCA (POLG) | ||
| ENST00000268124.9:c.158_159insGCAACAGCA (POLG) | ENSP00000268124.5:p.Gln53_Gln54insGlnGlnGln | |
| ENST00000442287.6:c.158_159insGCAACAGCA (POLG) | ENSP00000399851.2:p.Gln53_Gln54insGlnGlnGln | |
| ENST00000631044.2:c.158_159insGCAACAGCA (POLG) | ENSP00000486730.1:p.Gln53_Gln54insGlnGlnGln | |
| NM_001126131.1:c.158_159insGCAACAGCA (POLG) | NP_001119603.1:p.Gln53_Gln54insGlnGlnGln | |
| NM_002693.2:c.158_159insGCAACAGCA (POLG) | NP_002684.1:p.Gln53_Gln54insGlnGlnGln | |
| NM_001126131.2:c.158_159insGCAACAGCA (POLG) | NP_001119603.1:p.Gln53_Gln54insGlnGlnGln | |
| NM_002693.3:c.158_159insGCAACAGCA (POLG) MANE Select | NP_002684.1:p.Gln53_Gln54insGlnGlnGln |