Linked Data
ClinVar Variation Id:
1176638
dbSNP Id:
rs41550117
gnomAD v3:
15-89333596-TTGCTGCTGCTGCTGCTGCTGCTGC-T
gnomAD v4:
15-89333596-TTGCTGCTGCTGCTGCTGCTGCTGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89333606_89333629del , CM000677.2:g.89333606_89333629del | GRCh38 |
| NC_000015.9:g.89876837_89876860del , CM000677.1:g.89876837_89876860del | GRCh37 |
| NC_000015.8:g.87677841_87677864del | NCBI36 |
| NG_008218.1:g.6176_6199del | |
| NG_008218.2:g.6176_6199del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.135_158del (POLG) | ENSP00000516154.1:p.Gln46_Gln53del | |
| ENST00000706918.1:c.190_213del (POLGARF) | ENSP00000516626.1:p.Ala64_Ala71del | |
| ENST00000268124.11:c.135_158del (POLG) MANE Select | ENSP00000268124.5:p.Gln46_Gln53del | |
| ENST00000635986.2:c.135_158del (POLG) | ENSP00000490653.2:p.Gln46_Gln53del | |
| ENST00000636774.1:c.135_158del (POLG) | ENSP00000489799.1:p.Gln46_Gln53del | |
| ENST00000650303.2:c.190_213del (POLG) | ENSP00000497242.2:p.Ala64_Ala71del | |
| ENST00000672071.1:n.333_356del (POLG) | ||
| ENST00000268124.9:c.135_158del (POLG) | ENSP00000268124.5:p.Gln46_Gln53del | |
| ENST00000442287.6:c.135_158del (POLG) | ENSP00000399851.2:p.Gln46_Gln53del | |
| ENST00000631044.2:c.135_158del (POLG) | ENSP00000486730.1:p.Gln46_Gln53del | |
| NM_001126131.1:c.135_158del (POLG) | NP_001119603.1:p.Gln46_Gln53del | |
| NM_002693.2:c.135_158del (POLG) | NP_002684.1:p.Gln46_Gln53del | |
| NM_001126131.2:c.135_158del (POLG) | NP_001119603.1:p.Gln46_Gln53del | |
| NM_002693.3:c.135_158del (POLG) MANE Select | NP_002684.1:p.Gln46_Gln53del |