Linked Data
ClinVar Variation Id:
942573
ClinVar RCV Id:
RCV001212583
dbSNP Id:
rs771937417
gnomAD v2:
15-89876809-C-CGGCTGCTGA
gnomAD v3:
15-89333578-C-CGGCTGCTGA
gnomAD v4:
15-89333578-C-CGGCTGCTGA
MyVariant Identifiers:
chr15:g.89876809_89876810insGGCTGCTGA (hg19)
chr15:g.89333578_89333579insGGCTGCTGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89333587_89333595dup , CM000677.2:g.89333587_89333595dup | GRCh38 |
| NC_000015.9:g.89876818_89876826dup , CM000677.1:g.89876818_89876826dup | GRCh37 |
| NC_000015.8:g.87677822_87677830dup | NCBI36 |
| NG_008218.1:g.6209_6217dup | |
| NG_008218.2:g.6209_6217dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.168_176dup (POLG) | ENSP00000516154.1:p.Pro59_Gln60insGlnGlnPro | |
| ENST00000706918.1:c.223_231dup (POLGARF) | ENSP00000516626.1:p.Ala77_Ala78insSerAlaAla | |
| ENST00000268124.11:c.168_176dup (POLG) MANE Select | ENSP00000268124.5:p.Pro59_Gln60insGlnGlnPro | |
| ENST00000635986.2:c.168_176dup (POLG) | ENSP00000490653.2:p.Pro59_Gln60insGlnGlnPro | |
| ENST00000636774.1:c.168_176dup (POLG) | ENSP00000489799.1:p.Pro59_Gln60insGlnGlnPro | |
| ENST00000650303.2:c.223_231dup (POLG) | ENSP00000497242.2:p.Ala77_Ala78insSerAlaAla | |
| ENST00000672071.1:n.366_374dup (POLG) | ||
| ENST00000268124.9:c.168_176dup (POLG) | ENSP00000268124.5:p.Pro59_Gln60insGlnGlnPro | |
| ENST00000442287.6:c.168_176dup (POLG) | ENSP00000399851.2:p.Pro59_Gln60insGlnGlnPro | |
| ENST00000631044.2:c.168_176dup (POLG) | ENSP00000486730.1:p.Pro59_Gln60insGlnGlnPro | |
| NM_001126131.1:c.168_176dup (POLG) | NP_001119603.1:p.Pro59_Gln60insGlnGlnPro | |
| NM_002693.2:c.168_176dup (POLG) | NP_002684.1:p.Pro59_Gln60insGlnGlnPro | |
| NM_001126131.2:c.168_176dup (POLG) | NP_001119603.1:p.Pro59_Gln60insGlnGlnPro | |
| NM_002693.3:c.168_176dup (POLG) MANE Select | NP_002684.1:p.Pro59_Gln60insGlnGlnPro |