Canonical Allele Identifier: CA2630255347

Gene: POLG

Linked Data

• gnomAD v4: 15-89323257-G-GTGCCTGAAATCTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323257_89323258insTGCCTGAAATCTGC , CM000677.2:g.89323257_89323258insTGCCTGAAATCTGC	GRCh38
NC_000015.9:g.89866488_89866489insTGCCTGAAATCTGC , CM000677.1:g.89866488_89866489insTGCCTGAAATCTGC	GRCh37
NC_000015.8:g.87667492_87667493insTGCCTGAAATCTGC	NCBI36
NG_008218.1:g.16538_16539insGCAGATTTCAGGCA
NG_008218.2:g.16538_16539insGCAGATTTCAGGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2265+146_2265+147insGCAGATTTCAGGCA	ENSP00000516154.1:n.2265+146_2265+147insG...
ENST00000268124.11:c.2265+146_2265+147insGCAGATTTCAGGCA MANE Select	ENSP00000268124.5:n.2265+146_2265+147insG...
ENST00000530292.3:c.1866+146_1866+147insGCAGATTTCAGGCA	ENSP00000432885.2:n.1866+146_1866+147insG...
ENST00000635986.2:c.2265+146_2265+147insGCAGATTTCAGGCA	ENSP00000490653.2:n.2265+146_2265+147insG...
ENST00000636774.1:c.*832+146_*832+147insGCAGATTTCAGGCA	ENSP00000489799.1:n.*832+146_*832+147insG...
ENST00000637238.1:c.962+146_962+147insGCAGATTTCAGGCA	ENSP00000490756.1:n.962+146_962+147insGCA...
ENST00000637264.1:c.1337+146_1337+147insGCAGATTTCAGGCA
ENST00000666746.1:c.1842+146_1842+147insGCAGATTTCAGGCA
ENST00000670281.1:c.585+146_585+147insGCAGATTTCAGGCA	ENSP00000499709.1:n.585+146_585+147insGCA...
ENST00000672071.1:n.2463+146_2463+147insGCAGATTTCAGGCA
ENST00000672923.2:n.2368+146_2368+147insGCAGATTTCAGGCA
ENST00000268124.9:c.2265+146_2265+147insGCAGATTTCAGGCA	ENSP00000268124.5:n.2265+146_2265+147insG...
ENST00000442287.6:c.2265+146_2265+147insGCAGATTTCAGGCA	ENSP00000399851.2:n.2265+146_2265+147insG...
ENST00000526314.2:c.540-356_540-355insGCAGATTTCAGGCA
ENST00000526398.1:c.414+146_414+147insGCAGATTTCAGGCA
ENST00000528881.2:c.34+146_34+147insGCAGATTTCAGGCA
ENST00000530715.5:c.24+146_24+147insGCAGATTTCAGGCA	ENSP00000431395.1:n.24+146_24+147insGCAGA...
ENST00000532584.5:n.467+146_467+147insGCAGATTTCAGGCA
ENST00000631044.2:c.*1689+146_*1689+147insGCAGATTTCAGGCA	ENSP00000486730.1:n.*1689+146_*1689+147in...
NM_001126131.1:c.2265+146_2265+147insGCAGATTTCAGGCA	NP_001119603.1:n.2265+146_2265+147insGCAG...
NM_002693.2:c.2265+146_2265+147insGCAGATTTCAGGCA	NP_002684.1:n.2265+146_2265+147insGCAGATT...
NM_001126131.2:c.2265+146_2265+147insGCAGATTTCAGGCA	NP_001119603.1:n.2265+146_2265+147insGCAG...
NM_002693.3:c.2265+146_2265+147insGCAGATTTCAGGCA MANE Select	NP_002684.1:n.2265+146_2265+147insGCAGATT...