Canonical Allele Identifier: CA274539853

Gene: POLG

Linked Data

• dbSNP Id: rs745355538
• gnomAD v3: 15-89317680-G-GTGAA
• gnomAD v4: 15-89317680-G-GTGAA
• MyVariant Identifiers: chr15:g.89860911_89860912insTGAA (hg19) ; chr15:g.89317680_89317681insTGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317681_89317684dup , CM000677.2:g.89317681_89317684dup	GRCh38
NC_000015.9:g.89860912_89860915dup , CM000677.1:g.89860912_89860915dup	GRCh37
NC_000015.8:g.87661916_87661919dup	NCBI36
NG_008218.1:g.22112_22115dup
NG_011736.1:g.78719_78722dup , LRG_500:g.78719_78722dup
NG_008218.2:g.22112_22115dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-148_3483-145dup	ENSP00000516154.1:n.3483-148_3483-145dup
ENST00000268124.11:c.3483-148_3483-145dup MANE Select	ENSP00000268124.5:n.3483-148_3483-145dup
ENST00000530292.3:c.3183-148_3183-145dup	ENSP00000432885.2:n.3183-148_3183-145dup
ENST00000635986.2:c.*553-148_*553-145dup	ENSP00000490653.2:n.*553-148_*553-145dup
ENST00000636774.1:c.*2087-148_*2087-145dup	ENSP00000489799.1:n.*2087-148_*2087-145dup
ENST00000637042.1:n.72-213_72-210dup
ENST00000637238.1:c.2391-148_2391-145dup	ENSP00000490756.1:n.2391-148_2391-145dup
ENST00000637264.1:c.2555-208_2555-205dup
ENST00000666746.1:c.3060-148_3060-145dup
ENST00000672071.1:n.4537_4540dup
ENST00000672695.1:n.1262-148_1262-145dup
ENST00000672923.2:n.3483-148_3483-145dup
ENST00000268124.9:c.3483-148_3483-145dup	ENSP00000268124.5:n.3483-148_3483-145dup
ENST00000442287.6:c.3483-148_3483-145dup	ENSP00000399851.2:n.3483-148_3483-145dup
ENST00000526671.1:n.145_148dup
ENST00000530292.2:c.666-148_666-145dup	ENSP00000432885.1:n.666-148_666-145dup
ENST00000631044.2:c.*2907-148_*2907-145dup	ENSP00000486730.1:n.*2907-148_*2907-145dup
NM_001126131.1:c.3483-148_3483-145dup	NP_001119603.1:n.3483-148_3483-145dup
NM_002693.2:c.3483-148_3483-145dup	NP_002684.1:n.3483-148_3483-145dup
NM_001126131.2:c.3483-148_3483-145dup	NP_001119603.1:n.3483-148_3483-145dup
NM_002693.3:c.3483-148_3483-145dup MANE Select	NP_002684.1:n.3483-148_3483-145dup