Canonical Allele Identifier: CA2194550173

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321695_89321697delinsGGA , CM000677.2:g.89321695_89321697delinsGGA	GRCh38
NC_000015.9:g.89864926_89864928delinsGGA , CM000677.1:g.89864926_89864928delinsGGA	GRCh37
NC_000015.8:g.87665930_87665932delinsGGA	NCBI36
NG_008218.1:g.18099_18101delinsTCC
NG_008218.2:g.18099_18101delinsTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2598+39_2598+41delinsTCC	ENSP00000516154.1:n.2598+39_2598+41delinsTCC
ENST00000268124.11:c.2598+39_2598+41delinsTCC MANE Select	ENSP00000268124.5:n.2598+39_2598+41delinsTCC
ENST00000530292.3:c.2199+39_2199+41delinsTCC	ENSP00000432885.2:n.2199+39_2199+41delinsTCC
ENST00000635986.2:c.2598+39_2598+41delinsTCC	ENSP00000490653.2:n.2598+39_2598+41delinsTCC
ENST00000636774.1:c.*1165+39_*1165+41delinsTCC	ENSP00000489799.1:n.*1165+39_*1165+41delinsTCC
ENST00000637238.1:c.1295+39_1295+41delinsTCC	ENSP00000490756.1:n.1295+39_1295+41delinsTCC
ENST00000637264.1:c.1670+39_1670+41delinsTCC
ENST00000666746.1:c.2175+39_2175+41delinsTCC
ENST00000670281.1:c.800+265_800+267delinsTCC	ENSP00000499709.1:n.800+265_800+267delinsTCC
ENST00000672071.1:n.2796+39_2796+41delinsTCC
ENST00000672923.2:n.2540+39_2540+41delinsTCC
ENST00000268124.9:c.2598+39_2598+41delinsTCC	ENSP00000268124.5:n.2598+39_2598+41delinsTCC
ENST00000442287.6:c.2598+39_2598+41delinsTCC	ENSP00000399851.2:n.2598+39_2598+41delinsTCC
ENST00000528881.2:c.196-437_196-435delinsTCC
ENST00000530715.5:c.186-828_186-826delinsTCC	ENSP00000431395.1:n.186-828_186-826delinsTCC
ENST00000631044.2:c.*2022+39_*2022+41delinsTCC	ENSP00000486730.1:n.*2022+39_*2022+41delinsTCC
NM_001126131.1:c.2598+39_2598+41delinsTCC	NP_001119603.1:n.2598+39_2598+41delinsTCC
NM_002693.2:c.2598+39_2598+41delinsTCC	NP_002684.1:n.2598+39_2598+41delinsTCC
NM_001126131.2:c.2598+39_2598+41delinsTCC	NP_001119603.1:n.2598+39_2598+41delinsTCC
NM_002693.3:c.2598+39_2598+41delinsTCC MANE Select	NP_002684.1:n.2598+39_2598+41delinsTCC