Canonical Allele Identifier: CA2194548170

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320972_89320977delinsCTTCCT , CM000677.2:g.89320972_89320977delinsCTTCCT	GRCh38
NC_000015.9:g.89864203_89864208delinsCTTCCT , CM000677.1:g.89864203_89864208delinsCTTCCT	GRCh37
NC_000015.8:g.87665207_87665212delinsCTTCCT	NCBI36
NG_008218.1:g.18819_18824delinsAGGAAG
NG_008218.2:g.18819_18824delinsAGGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2770_2775delinsAGGAAG	ENSP00000516154.1:p.Arg924=
ENST00000268124.11:c.2770_2775delinsAGGAAG MANE Select	ENSP00000268124.5:p.Arg924=
ENST00000530292.3:c.2371_2376delinsAGGAAG	ENSP00000432885.2:p.Arg791=
ENST00000635986.2:c.2770_2775delinsAGGAAG	ENSP00000490653.2:p.Arg924=
ENST00000636774.1:c.*1337_*1342delinsAGGAAG	ENSP00000489799.1:n.*1337_*1342delinsAGGAAG
ENST00000637238.1:c.1579_1584delinsAGGAAG	ENSP00000490756.1:n.1579_1584delinsAGGAAG
ENST00000637264.1:c.1842_1847delinsAGGAAG
ENST00000666746.1:c.2347_2352delinsAGGAAG
ENST00000670281.1:c.800+985_800+990delinsAGGAAG	ENSP00000499709.1:n.800+985_800+990delinsAGGAAG
ENST00000672071.1:n.2968_2973delinsAGGAAG
ENST00000672923.2:n.2712_2717delinsAGGAAG
ENST00000268124.9:c.2770_2775delinsAGGAAG	ENSP00000268124.5:p.Arg924=
ENST00000442287.6:c.2770_2775delinsAGGAAG	ENSP00000399851.2:p.Arg924=
ENST00000528881.2:c.367_372delinsAGGAAG
ENST00000530715.5:c.186-108_186-103delinsAGGAAG	ENSP00000431395.1:n.186-108_186-103delinsAGGAAG
ENST00000631044.2:c.*2194_*2199delinsAGGAAG	ENSP00000486730.1:n.*2194_*2199delinsAGGAAG
NM_001126131.1:c.2770_2775delinsAGGAAG	NP_001119603.1:p.Arg924=
NM_002693.2:c.2770_2775delinsAGGAAG	NP_002684.1:p.Arg924=
NM_001126131.2:c.2770_2775delinsAGGAAG	NP_001119603.1:p.Arg924=
NM_002693.3:c.2770_2775delinsAGGAAG MANE Select	NP_002684.1:p.Arg924=