Canonical Allele Identifier: CA2630255331

Gene: POLG

Linked Data

• gnomAD v4: 15-89317680-G-GACCCCACACCCCTTAGAGCAGGGCTTCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317680_89317681insACCCCACACCCCTTAGAGCAGGGCTTCCCC , CM000677.2:g.89317680_89317681insACCCCACACCCCTTAGAGCAGGGCTTCCCC	GRCh38
NC_000015.9:g.89860911_89860912insACCCCACACCCCTTAGAGCAGGGCTTCCCC , CM000677.1:g.89860911_89860912insACCCCACACCCCTTAGAGCAGGGCTTCCCC	GRCh37
NC_000015.8:g.87661915_87661916insACCCCACACCCCTTAGAGCAGGGCTTCCCC	NCBI36
NG_008218.1:g.22115_22116insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT
NG_011736.1:g.78718_78719insACCCCACACCCCTTAGAGCAGGGCTTCCCC , LRG_500:g.78718_78719insACCCCACACCCCTTAGAGCAGGGCTTCCCC
NG_008218.2:g.22115_22116insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-145_3483-144insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT	ENSP00000516154.1:n.3483-145_3483-144insGGGGAAGCCCTGCTCTAAGGG...
ENST00000268124.11:c.3483-145_3483-144insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT MANE Select	ENSP00000268124.5:n.3483-145_3483-144insGGGGAAGCCCTGCTCTAAGGG...
ENST00000530292.3:c.3183-145_3183-144insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT	ENSP00000432885.2:n.3183-145_3183-144insGGGGAAGCCCTGCTCTAAGGG...
ENST00000635986.2:c.*553-145_*553-144insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT	ENSP00000490653.2:n.*553-145_*553-144insGGGGAAGCCCTGCTCTAAGGG...
ENST00000636774.1:c.*2087-145_*2087-144insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT	ENSP00000489799.1:n.*2087-145_*2087-144insGGGGAAGCCCTGCTCTAAG...
ENST00000637042.1:n.72-210_72-209insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT
ENST00000637238.1:c.2391-145_2391-144insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT	ENSP00000490756.1:n.2391-145_2391-144insGGGGAAGCCCTGCTCTAAGGG...
ENST00000637264.1:c.2555-205_2555-204insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT
ENST00000666746.1:c.3060-145_3060-144insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT
ENST00000672071.1:n.4540_4541insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT
ENST00000672695.1:n.1262-145_1262-144insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT
ENST00000672923.2:n.3483-145_3483-144insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT
ENST00000268124.9:c.3483-145_3483-144insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT	ENSP00000268124.5:n.3483-145_3483-144insGGGGAAGCCCTGCTCTAAGGG...
ENST00000442287.6:c.3483-145_3483-144insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT	ENSP00000399851.2:n.3483-145_3483-144insGGGGAAGCCCTGCTCTAAGGG...
ENST00000526671.1:n.148_149insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT
ENST00000530292.2:c.666-145_666-144insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT	ENSP00000432885.1:n.666-145_666-144insGGGGAAGCCCTGCTCTAAGGGGT...
ENST00000631044.2:c.*2907-145_*2907-144insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT	ENSP00000486730.1:n.*2907-145_*2907-144insGGGGAAGCCCTGCTCTAAG...
NM_001126131.1:c.3483-145_3483-144insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT	NP_001119603.1:n.3483-145_3483-144insGGGGAAGCCCTGCTCTAAGGGGTG...
NM_002693.2:c.3483-145_3483-144insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT	NP_002684.1:n.3483-145_3483-144insGGGGAAGCCCTGCTCTAAGGGGTGTGG...
NM_001126131.2:c.3483-145_3483-144insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT	NP_001119603.1:n.3483-145_3483-144insGGGGAAGCCCTGCTCTAAGGGGTG...
NM_002693.3:c.3483-145_3483-144insGGGGAAGCCCTGCTCTAAGGGGTGTGGGGT MANE Select	NP_002684.1:n.3483-145_3483-144insGGGGAAGCCCTGCTCTAAGGGGTGTGG...