Canonical Allele Identifier: CA2194541063

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318336_89318337delinsAC , CM000677.2:g.89318336_89318337delinsAC	GRCh38
NC_000015.9:g.89861567_89861568delinsAC , CM000677.1:g.89861567_89861568delinsAC	GRCh37
NC_000015.8:g.87662571_87662572delinsAC	NCBI36
NG_008218.1:g.21459_21460delinsGT
NG_011736.1:g.79374_79375delinsAC , LRG_500:g.79374_79375delinsAC
NG_008218.2:g.21459_21460delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+204_3482+205delinsGT	ENSP00000516154.1:n.3482+204_3482+205delinsGT
ENST00000268124.11:c.3482+204_3482+205delinsGT MANE Select	ENSP00000268124.5:n.3482+204_3482+205delinsGT
ENST00000530292.3:c.3083+204_3083+205delinsGT	ENSP00000432885.2:n.3083+204_3083+205delinsGT
ENST00000635986.2:c.*552+204_*552+205delinsGT	ENSP00000490653.2:n.*552+204_*552+205delinsGT
ENST00000636774.1:c.*2049+204_*2049+205delinsGT	ENSP00000489799.1:n.*2049+204_*2049+205delinsGT
ENST00000637238.1:c.2291+204_2291+205delinsGT	ENSP00000490756.1:n.2291+204_2291+205delinsGT
ENST00000637264.1:c.2554+204_2554+205delinsGT
ENST00000666746.1:c.3059+204_3059+205delinsGT
ENST00000672071.1:n.3884_3885delinsGT
ENST00000672695.1:n.863_864delinsGT
ENST00000672923.2:n.3482+204_3482+205delinsGT
ENST00000268124.9:c.3482+204_3482+205delinsGT	ENSP00000268124.5:n.3482+204_3482+205delinsGT
ENST00000442287.6:c.3482+204_3482+205delinsGT	ENSP00000399851.2:n.3482+204_3482+205delinsGT
ENST00000530292.2:c.566+204_566+205delinsGT	ENSP00000432885.1:n.566+204_566+205delinsGT
ENST00000631044.2:c.*2906+204_*2906+205delinsGT	ENSP00000486730.1:n.*2906+204_*2906+205delinsGT
NM_001126131.1:c.3482+204_3482+205delinsGT	NP_001119603.1:n.3482+204_3482+205delinsGT
NM_002693.2:c.3482+204_3482+205delinsGT	NP_002684.1:n.3482+204_3482+205delinsGT
NM_001126131.2:c.3482+204_3482+205delinsGT	NP_001119603.1:n.3482+204_3482+205delinsGT
NM_002693.3:c.3482+204_3482+205delinsGT MANE Select	NP_002684.1:n.3482+204_3482+205delinsGT