Canonical Allele Identifier: CA2194555452

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323465_89323480delinsCCATGGTGATAGCTGG , CM000677.2:g.89323465_89323480delinsCCATGGTGATAGCTGG	GRCh38
NC_000015.9:g.89866696_89866711delinsCCATGGTGATAGCTGG , CM000677.1:g.89866696_89866711delinsCCATGGTGATAGCTGG	GRCh37
NC_000015.8:g.87667700_87667715delinsCCATGGTGATAGCTGG	NCBI36
NG_008218.1:g.16316_16331delinsCCAGCTATCACCATGG
NG_008218.2:g.16316_16331delinsCCAGCTATCACCATGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2189_2204delinsCCAGCTATCACCATGG	ENSP00000516154.1:p.Pro730=
ENST00000268124.11:c.2189_2204delinsCCAGCTATCACCATGG MANE Select	ENSP00000268124.5:p.Pro730=
ENST00000530292.3:c.1790_1805delinsCCAGCTATCACCATGG	ENSP00000432885.2:p.Pro597=
ENST00000635986.2:c.2189_2204delinsCCAGCTATCACCATGG	ENSP00000490653.2:p.Pro730=
ENST00000636774.1:c.*756_*771delinsCCAGCTATCACCATGG	ENSP00000489799.1:n.*756_*771delinsCCAGCT...
ENST00000637238.1:c.886_901delinsCCAGCTATCACCATGG	ENSP00000490756.1:n.886_901delinsCCAGCTAT...
ENST00000637264.1:c.1261_1276delinsCCAGCTATCACCATGG
ENST00000666746.1:c.1766_1781delinsCCAGCTATCACCATGG
ENST00000670281.1:c.509_524delinsCCAGCTATCACCATGG	ENSP00000499709.1:p.Pro170=
ENST00000672071.1:n.2387_2402delinsCCAGCTATCACCATGG
ENST00000672923.2:n.2292_2307delinsCCAGCTATCACCATGG
ENST00000268124.9:c.2189_2204delinsCCAGCTATCACCATGG	ENSP00000268124.5:p.Pro730=
ENST00000442287.6:c.2189_2204delinsCCAGCTATCACCATGG	ENSP00000399851.2:p.Pro730=
ENST00000526314.2:c.539+335_539+350delinsCCAGCTATCACCATGG
ENST00000526398.1:c.338_353delinsCCAGCTATCACCATGG
ENST00000532584.5:n.391_406delinsCCAGCTATCACCATGG
ENST00000631044.2:c.*1613_*1628delinsCCAGCTATCACCATGG	ENSP00000486730.1:n.*1613_*1628delinsCCAG...
NM_001126131.1:c.2189_2204delinsCCAGCTATCACCATGG	NP_001119603.1:p.Pro730=
NM_002693.2:c.2189_2204delinsCCAGCTATCACCATGG	NP_002684.1:p.Pro730=
NM_001126131.2:c.2189_2204delinsCCAGCTATCACCATGG	NP_001119603.1:p.Pro730=
NM_002693.3:c.2189_2204delinsCCAGCTATCACCATGG MANE Select	NP_002684.1:p.Pro730=