Canonical Allele Identifier: CA2630255269

Gene: POLG

Linked Data

• gnomAD v4: 15-89317629-G-GGCAGAGGGGCCCCAGGGAGGGCAGGGCAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317631_89317632insAGAGGGGCCCCAGGGAGGGCAGGGCAGAGC , CM000677.2:g.89317631_89317632insAGAGGGGCCCCAGGGAGGGCAGGGCAGAGC	GRCh38
NC_000015.9:g.89860862_89860863insAGAGGGGCCCCAGGGAGGGCAGGGCAGAGC , CM000677.1:g.89860862_89860863insAGAGGGGCCCCAGGGAGGGCAGGGCAGAGC	GRCh37
NC_000015.8:g.87661866_87661867insAGAGGGGCCCCAGGGAGGGCAGGGCAGAGC	NCBI36
NG_008218.1:g.22166_22167insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC
NG_011736.1:g.78669_78670insAGAGGGGCCCCAGGGAGGGCAGGGCAGAGC , LRG_500:g.78669_78670insAGAGGGGCCCCAGGGAGGGCAGGGCAGAGC
NG_008218.2:g.22166_22167insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-94_3483-93insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC	ENSP00000516154.1:n.3483-94_3483-93insTCTGCCCTGCCCTCCCTGGGGCC...
ENST00000268124.11:c.3483-94_3483-93insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC MANE Select	ENSP00000268124.5:n.3483-94_3483-93insTCTGCCCTGCCCTCCCTGGGGCC...
ENST00000530292.3:c.3183-94_3183-93insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC	ENSP00000432885.2:n.3183-94_3183-93insTCTGCCCTGCCCTCCCTGGGGCC...
ENST00000635986.2:c.*553-94_*553-93insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC	ENSP00000490653.2:n.*553-94_*553-93insTCTGCCCTGCCCTCCCTGGGGCC...
ENST00000636774.1:c.*2087-94_*2087-93insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC	ENSP00000489799.1:n.*2087-94_*2087-93insTCTGCCCTGCCCTCCCTGGGG...
ENST00000637042.1:n.72-159_72-158insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC
ENST00000637238.1:c.2391-94_2391-93insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC	ENSP00000490756.1:n.2391-94_2391-93insTCTGCCCTGCCCTCCCTGGGGCC...
ENST00000637264.1:c.2555-154_2555-153insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC
ENST00000666746.1:c.3060-94_3060-93insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC
ENST00000672071.1:n.4591_4592insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC
ENST00000672695.1:n.1262-94_1262-93insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC
ENST00000672923.2:n.3483-94_3483-93insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC
ENST00000268124.9:c.3483-94_3483-93insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC	ENSP00000268124.5:n.3483-94_3483-93insTCTGCCCTGCCCTCCCTGGGGCC...
ENST00000442287.6:c.3483-94_3483-93insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC	ENSP00000399851.2:n.3483-94_3483-93insTCTGCCCTGCCCTCCCTGGGGCC...
ENST00000526671.1:n.199_200insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC
ENST00000530292.2:c.666-94_666-93insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC	ENSP00000432885.1:n.666-94_666-93insTCTGCCCTGCCCTCCCTGGGGCCCC...
ENST00000631044.2:c.*2907-94_*2907-93insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC	ENSP00000486730.1:n.*2907-94_*2907-93insTCTGCCCTGCCCTCCCTGGGG...
NM_001126131.1:c.3483-94_3483-93insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC	NP_001119603.1:n.3483-94_3483-93insTCTGCCCTGCCCTCCCTGGGGCCCCT...
NM_002693.2:c.3483-94_3483-93insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC	NP_002684.1:n.3483-94_3483-93insTCTGCCCTGCCCTCCCTGGGGCCCCTCTG...
NM_001126131.2:c.3483-94_3483-93insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC	NP_001119603.1:n.3483-94_3483-93insTCTGCCCTGCCCTCCCTGGGGCCCCT...
NM_002693.3:c.3483-94_3483-93insTCTGCCCTGCCCTCCCTGGGGCCCCTCTGC MANE Select	NP_002684.1:n.3483-94_3483-93insTCTGCCCTGCCCTCCCTGGGGCCCCTCTG...