Canonical Allele Identifier: CA2194549694

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321521_89321522delinsAC , CM000677.2:g.89321521_89321522delinsAC	GRCh38
NC_000015.9:g.89864752_89864753delinsAC , CM000677.1:g.89864752_89864753delinsAC	GRCh37
NC_000015.8:g.87665756_87665757delinsAC	NCBI36
NG_008218.1:g.18274_18275delinsGT
NG_008218.2:g.18274_18275delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2598+214_2598+215delinsGT	ENSP00000516154.1:n.2598+214_2598+215delinsGT
ENST00000268124.11:c.2598+214_2598+215delinsGT MANE Select	ENSP00000268124.5:n.2598+214_2598+215delinsGT
ENST00000530292.3:c.2199+214_2199+215delinsGT	ENSP00000432885.2:n.2199+214_2199+215delinsGT
ENST00000635986.2:c.2598+214_2598+215delinsGT	ENSP00000490653.2:n.2598+214_2598+215delinsGT
ENST00000636774.1:c.*1165+214_*1165+215delinsGT	ENSP00000489799.1:n.*1165+214_*1165+215delinsGT
ENST00000637238.1:c.1295+214_1295+215delinsGT	ENSP00000490756.1:n.1295+214_1295+215delinsGT
ENST00000637264.1:c.1670+214_1670+215delinsGT
ENST00000666746.1:c.2175+214_2175+215delinsGT
ENST00000670281.1:c.800+440_800+441delinsGT	ENSP00000499709.1:n.800+440_800+441delinsGT
ENST00000672071.1:n.2796+214_2796+215delinsGT
ENST00000672923.2:n.2540+214_2540+215delinsGT
ENST00000268124.9:c.2598+214_2598+215delinsGT	ENSP00000268124.5:n.2598+214_2598+215delinsGT
ENST00000442287.6:c.2598+214_2598+215delinsGT	ENSP00000399851.2:n.2598+214_2598+215delinsGT
ENST00000528881.2:c.196-262_196-261delinsGT
ENST00000530715.5:c.186-653_186-652delinsGT	ENSP00000431395.1:n.186-653_186-652delinsGT
ENST00000631044.2:c.*2022+214_*2022+215delinsGT	ENSP00000486730.1:n.*2022+214_*2022+215delinsGT
NM_001126131.1:c.2598+214_2598+215delinsGT	NP_001119603.1:n.2598+214_2598+215delinsGT
NM_002693.2:c.2598+214_2598+215delinsGT	NP_002684.1:n.2598+214_2598+215delinsGT
NM_001126131.2:c.2598+214_2598+215delinsGT	NP_001119603.1:n.2598+214_2598+215delinsGT
NM_002693.3:c.2598+214_2598+215delinsGT MANE Select	NP_002684.1:n.2598+214_2598+215delinsGT