Linked Data
dbSNP Id:
rs774878092
ExAC:
15:89876855 T / TGCTGCC
gnomAD v2:
15-89876855-T-TGCTGCC
gnomAD v3:
15-89333624-T-TGCTGCC
gnomAD v4:
15-89333624-T-TGCTGCC
MyVariant Identifiers:
chr15:g.89876855_89876856insGCTGCC (hg19)
chr15:g.89333624_89333625insGCTGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89333627_89333632dup , CM000677.2:g.89333627_89333632dup | GRCh38 |
| NC_000015.9:g.89876858_89876863dup , CM000677.1:g.89876858_89876863dup | GRCh37 |
| NC_000015.8:g.87677862_87677867dup | NCBI36 |
| NG_008218.1:g.6166_6171dup | |
| NG_008218.2:g.6166_6171dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.125_130dup (POLG) | ENSP00000516154.1:p.Gln43_Gln44insArgGln | |
| ENST00000706918.1:c.180_185dup (POLGARF) | ENSP00000516626.1:p.Ala62_Ala63insAlaAla | |
| ENST00000268124.11:c.125_130dup (POLG) MANE Select | ENSP00000268124.5:p.Gln43_Gln44insArgGln | |
| ENST00000635986.2:c.125_130dup (POLG) | ENSP00000490653.2:p.Gln43_Gln44insArgGln | |
| ENST00000636774.1:c.125_130dup (POLG) | ENSP00000489799.1:p.Gln43_Gln44insArgGln | |
| ENST00000650303.2:c.180_185dup (POLG) | ENSP00000497242.2:p.Ala62_Ala63insAlaAla | |
| ENST00000672071.1:n.323_328dup (POLG) | ||
| ENST00000268124.9:c.125_130dup (POLG) | ENSP00000268124.5:p.Gln43_Gln44insArgGln | |
| ENST00000442287.6:c.125_130dup (POLG) | ENSP00000399851.2:p.Gln43_Gln44insArgGln | |
| ENST00000631044.2:c.125_130dup (POLG) | ENSP00000486730.1:p.Gln43_Gln44insArgGln | |
| NM_001126131.1:c.125_130dup (POLG) | NP_001119603.1:p.Gln43_Gln44insArgGln | |
| NM_002693.2:c.125_130dup (POLG) | NP_002684.1:p.Gln43_Gln44insArgGln | |
| NM_001126131.2:c.125_130dup (POLG) | NP_001119603.1:p.Gln43_Gln44insArgGln | |
| NM_002693.3:c.125_130dup (POLG) MANE Select | NP_002684.1:p.Gln43_Gln44insArgGln |