Canonical Allele Identifier: CA274539849

Gene: POLG

Linked Data

• dbSNP Id: rs973609774
• gnomAD v2: 15-89860903-C-CAAGAA
• gnomAD v3: 15-89317672-C-CAAGAA
• gnomAD v4: 15-89317672-C-CAAGAA
• MyVariant Identifiers: chr15:g.89860903_89860904insAAGAA (hg19) ; chr15:g.89317672_89317673insAAGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317674_89317678dup , CM000677.2:g.89317674_89317678dup	GRCh38
NC_000015.9:g.89860905_89860909dup , CM000677.1:g.89860905_89860909dup	GRCh37
NC_000015.8:g.87661909_87661913dup	NCBI36
NG_008218.1:g.22119_22123dup
NG_011736.1:g.78712_78716dup , LRG_500:g.78712_78716dup
NG_008218.2:g.22119_22123dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-141_3483-137dup	ENSP00000516154.1:n.3483-141_3483-137dup
ENST00000268124.11:c.3483-141_3483-137dup MANE Select	ENSP00000268124.5:n.3483-141_3483-137dup
ENST00000530292.3:c.3183-141_3183-137dup	ENSP00000432885.2:n.3183-141_3183-137dup
ENST00000635986.2:c.*553-141_*553-137dup	ENSP00000490653.2:n.*553-141_*553-137dup
ENST00000636774.1:c.*2087-141_*2087-137dup	ENSP00000489799.1:n.*2087-141_*2087-137dup
ENST00000637042.1:n.72-206_72-202dup
ENST00000637238.1:c.2391-141_2391-137dup	ENSP00000490756.1:n.2391-141_2391-137dup
ENST00000637264.1:c.2555-201_2555-197dup
ENST00000666746.1:c.3060-141_3060-137dup
ENST00000672071.1:n.4544_4548dup
ENST00000672695.1:n.1262-141_1262-137dup
ENST00000672923.2:n.3483-141_3483-137dup
ENST00000268124.9:c.3483-141_3483-137dup	ENSP00000268124.5:n.3483-141_3483-137dup
ENST00000442287.6:c.3483-141_3483-137dup	ENSP00000399851.2:n.3483-141_3483-137dup
ENST00000526671.1:n.152_156dup
ENST00000530292.2:c.666-141_666-137dup	ENSP00000432885.1:n.666-141_666-137dup
ENST00000631044.2:c.*2907-141_*2907-137dup	ENSP00000486730.1:n.*2907-141_*2907-137dup
NM_001126131.1:c.3483-141_3483-137dup	NP_001119603.1:n.3483-141_3483-137dup
NM_002693.2:c.3483-141_3483-137dup	NP_002684.1:n.3483-141_3483-137dup
NM_001126131.2:c.3483-141_3483-137dup	NP_001119603.1:n.3483-141_3483-137dup
NM_002693.3:c.3483-141_3483-137dup MANE Select	NP_002684.1:n.3483-141_3483-137dup