Canonical Allele Identifier: CA2805167544

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317608_89317609insAGTT , CM000677.2:g.89317608_89317609insAGTT	GRCh38
NC_000015.9:g.89860839_89860840insAGTT , CM000677.1:g.89860839_89860840insAGTT	GRCh37
NC_000015.8:g.87661843_87661844insAGTT	NCBI36
NG_008218.1:g.22187_22188insAACT
NG_011736.1:g.78646_78647insAGTT , LRG_500:g.78646_78647insAGTT
NG_008218.2:g.22187_22188insAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-73_3483-72insAACT	ENSP00000516154.1:n.3483-73_3483-72insAACT
ENST00000268124.11:c.3483-73_3483-72insAACT MANE Select	ENSP00000268124.5:n.3483-73_3483-72insAACT
ENST00000530292.3:c.3183-73_3183-72insAACT	ENSP00000432885.2:n.3183-73_3183-72insAACT
ENST00000635986.2:c.*553-73_*553-72insAACT	ENSP00000490653.2:n.*553-73_*553-72insAACT
ENST00000636774.1:c.*2087-73_*2087-72insAACT	ENSP00000489799.1:n.*2087-73_*2087-72insAACT
ENST00000637042.1:n.72-138_72-137insAACT
ENST00000637238.1:c.2391-73_2391-72insAACT	ENSP00000490756.1:n.2391-73_2391-72insAACT
ENST00000637264.1:c.2555-133_2555-132insAACT
ENST00000666746.1:c.3060-73_3060-72insAACT
ENST00000672071.1:n.4612_4613insAACT
ENST00000672695.1:n.1262-73_1262-72insAACT
ENST00000672923.2:n.3483-73_3483-72insAACT
ENST00000268124.9:c.3483-73_3483-72insAACT	ENSP00000268124.5:n.3483-73_3483-72insAACT
ENST00000442287.6:c.3483-73_3483-72insAACT	ENSP00000399851.2:n.3483-73_3483-72insAACT
ENST00000526671.1:n.220_221insAACT
ENST00000530292.2:c.666-73_666-72insAACT	ENSP00000432885.1:n.666-73_666-72insAACT
ENST00000631044.2:c.*2907-73_*2907-72insAACT	ENSP00000486730.1:n.*2907-73_*2907-72insAACT
NM_001126131.1:c.3483-73_3483-72insAACT	NP_001119603.1:n.3483-73_3483-72insAACT
NM_002693.2:c.3483-73_3483-72insAACT	NP_002684.1:n.3483-73_3483-72insAACT
NM_001126131.2:c.3483-73_3483-72insAACT	NP_001119603.1:n.3483-73_3483-72insAACT
NM_002693.3:c.3483-73_3483-72insAACT MANE Select	NP_002684.1:n.3483-73_3483-72insAACT