Canonical Allele Identifier: CA2194548101

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320959_89320961delinsCAG , CM000677.2:g.89320959_89320961delinsCAG	GRCh38
NC_000015.9:g.89864190_89864192delinsCAG , CM000677.1:g.89864190_89864192delinsCAG	GRCh37
NC_000015.8:g.87665194_87665196delinsCAG	NCBI36
NG_008218.1:g.18835_18837delinsCTG
NG_008218.2:g.18835_18837delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2786_2788delinsCTG	ENSP00000516154.1:p.Thr929=
ENST00000268124.11:c.2786_2788delinsCTG MANE Select	ENSP00000268124.5:p.Thr929=
ENST00000530292.3:c.2387_2389delinsCTG	ENSP00000432885.2:p.Thr796=
ENST00000635986.2:c.2786_2788delinsCTG	ENSP00000490653.2:p.Thr929=
ENST00000636774.1:c.*1353_*1355delinsCTG	ENSP00000489799.1:n.*1353_*1355delinsCTG
ENST00000637238.1:c.1595_1597delinsCTG	ENSP00000490756.1:n.1595_1597delinsCTG
ENST00000637264.1:c.1858_1860delinsCTG
ENST00000666746.1:c.2363_2365delinsCTG
ENST00000670281.1:c.800+1001_800+1003delinsCTG	ENSP00000499709.1:n.800+1001_800+1003delinsCTG
ENST00000672071.1:n.2984_2986delinsCTG
ENST00000672923.2:n.2728_2730delinsCTG
ENST00000268124.9:c.2786_2788delinsCTG	ENSP00000268124.5:p.Thr929=
ENST00000442287.6:c.2786_2788delinsCTG	ENSP00000399851.2:p.Thr929=
ENST00000528881.2:c.383_385delinsCTG
ENST00000530715.5:c.186-92_186-90delinsCTG	ENSP00000431395.1:n.186-92_186-90delinsCTG
ENST00000631044.2:c.*2210_*2212delinsCTG	ENSP00000486730.1:n.*2210_*2212delinsCTG
NM_001126131.1:c.2786_2788delinsCTG	NP_001119603.1:p.Thr929=
NM_002693.2:c.2786_2788delinsCTG	NP_002684.1:p.Thr929=
NM_001126131.2:c.2786_2788delinsCTG	NP_001119603.1:p.Thr929=
NM_002693.3:c.2786_2788delinsCTG MANE Select	NP_002684.1:p.Thr929=