Canonical Allele Identifier: CA10602231

Gene: POLG

Linked Data

• ClinVar Variation Id: 619401
• ClinVar RCV Id: RCV000758429
• dbSNP Id: rs1567187103

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321790_89321791dup , CM000677.2:g.89321790_89321791dup	GRCh38
NC_000015.9:g.89865021_89865022dup , CM000677.1:g.89865021_89865022dup	GRCh37
NC_000015.8:g.87666025_87666026dup	NCBI36
NG_008218.1:g.18005_18006dup
NG_008218.2:g.18005_18006dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2543_2544dup	ENSP00000516154.1:p.Thr849AlafsTer23
ENST00000268124.11:c.2543_2544dup MANE Select	ENSP00000268124.5:p.Thr849AlafsTer23
ENST00000530292.3:c.2144_2145dup	ENSP00000432885.2:p.Thr716AlafsTer23
ENST00000635986.2:c.2543_2544dup	ENSP00000490653.2:p.Thr849AlafsTer23
ENST00000636774.1:c.*1110_*1111dup	ENSP00000489799.1:n.*1110_*1111dup
ENST00000637238.1:c.1240_1241dup	ENSP00000490756.1:n.1240_1241dup
ENST00000637264.1:c.1615_1616dup
ENST00000666746.1:c.2120_2121dup
ENST00000670281.1:c.800+171_800+172dup	ENSP00000499709.1:n.800+171_800+172dup
ENST00000672071.1:n.2741_2742dup
ENST00000672923.2:n.2485_2486dup
ENST00000268124.9:c.2543_2544dup	ENSP00000268124.5:p.Thr849AlafsTer23
ENST00000442287.6:c.2543_2544dup	ENSP00000399851.2:p.Thr849AlafsTer23
ENST00000528881.2:c.196-531_196-530dup
ENST00000530715.5:c.186-922_186-921dup	ENSP00000431395.1:n.186-922_186-921dup
ENST00000532584.5:n.692_693dup
ENST00000631044.2:c.*1967_*1968dup	ENSP00000486730.1:n.*1967_*1968dup
NM_001126131.1:c.2543_2544dup	NP_001119603.1:p.Thr849AlafsTer23
NM_002693.2:c.2543_2544dup	NP_002684.1:p.Thr849AlafsTer23
NM_001126131.2:c.2543_2544dup	NP_001119603.1:p.Thr849AlafsTer23
NM_002693.3:c.2543_2544dup MANE Select	NP_002684.1:p.Thr849AlafsTer23