Linked Data
ClinVar Variation Id:
206483
dbSNP Id:
rs768088414
gnomAD v2:
15-89876824-C-CTGT
gnomAD v3:
15-89333593-C-CTGT
gnomAD v4:
15-89333593-C-CTGT
MyVariant Identifiers:
chr15:g.89876825_89876827dup (hg19)
chr15:g.89876827_89876829dupTTG (hg19)
chr15:g.89876826_89876827insTTG (hg19)
chr15:g.89876824_89876825insTGT (hg19)
chr15:g.89333594_89333596dup (hg38)
chr15:g.89333596_89333598dupTTG (hg38)
chr15:g.89333595_89333596insTTG (hg38)
chr15:g.89333593_89333594insTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89333596_89333598dup , CM000677.2:g.89333596_89333598dup | GRCh38 |
| NC_000015.9:g.89876827_89876829dup , CM000677.1:g.89876827_89876829dup | GRCh37 |
| NC_000015.8:g.87677831_87677833dup | NCBI36 |
| NG_008218.1:g.6200_6202dup | |
| NG_008218.2:g.6200_6202dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.159_161dup (POLG) | ENSP00000516154.1:p.Gln54_Gln55insGln | |
| ENST00000706918.1:c.214_216dup (POLGARF) | ENSP00000516626.1:p.Thr72_Ala73insThr | |
| ENST00000268124.11:c.159_161dup (POLG) MANE Select | ENSP00000268124.5:p.Gln54_Gln55insGln | |
| ENST00000635986.2:c.159_161dup (POLG) | ENSP00000490653.2:p.Gln54_Gln55insGln | |
| ENST00000636774.1:c.159_161dup (POLG) | ENSP00000489799.1:p.Gln54_Gln55insGln | |
| ENST00000650303.2:c.214_216dup (POLG) | ENSP00000497242.2:p.Thr72_Ala73insThr | |
| ENST00000672071.1:n.357_359dup (POLG) | ||
| ENST00000268124.9:c.159_161dup (POLG) | ENSP00000268124.5:p.Gln54_Gln55insGln | |
| ENST00000442287.6:c.159_161dup (POLG) | ENSP00000399851.2:p.Gln54_Gln55insGln | |
| ENST00000631044.2:c.159_161dup (POLG) | ENSP00000486730.1:p.Gln54_Gln55insGln | |
| NM_001126131.1:c.159_161dup (POLG) | NP_001119603.1:p.Gln54_Gln55insGln | |
| NM_002693.2:c.159_161dup (POLG) | NP_002684.1:p.Gln54_Gln55insGln | |
| NM_001126131.2:c.159_161dup (POLG) | NP_001119603.1:p.Gln54_Gln55insGln | |
| NM_002693.3:c.159_161dup (POLG) MANE Select | NP_002684.1:p.Gln54_Gln55insGln |