Canonical Allele Identifier: CA716880845

Gene: POLG

Linked Data

• dbSNP Id: rs1274746386
• MyVariant Identifiers: chr15:g.89861647_89861648insAAGC (hg19) ; chr15:g.89318416_89318417insAAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318417_89318420dup , CM000677.2:g.89318417_89318420dup	GRCh38
NC_000015.9:g.89861648_89861651dup , CM000677.1:g.89861648_89861651dup	GRCh37
NC_000015.8:g.87662652_87662655dup	NCBI36
NG_008218.1:g.21376_21379dup
NG_011736.1:g.79455_79458dup , LRG_500:g.79455_79458dup
NG_008218.2:g.21376_21379dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+121_3482+124dup	ENSP00000516154.1:n.3482+121_3482+124dup
ENST00000268124.11:c.3482+121_3482+124dup MANE Select	ENSP00000268124.5:n.3482+121_3482+124dup
ENST00000530292.3:c.3083+121_3083+124dup	ENSP00000432885.2:n.3083+121_3083+124dup
ENST00000635986.2:c.*552+121_*552+124dup	ENSP00000490653.2:n.*552+121_*552+124dup
ENST00000636774.1:c.*2049+121_*2049+124dup	ENSP00000489799.1:n.*2049+121_*2049+124dup
ENST00000637238.1:c.2291+121_2291+124dup	ENSP00000490756.1:n.2291+121_2291+124dup
ENST00000637264.1:c.2554+121_2554+124dup
ENST00000666746.1:c.3059+121_3059+124dup
ENST00000672071.1:n.3801_3804dup
ENST00000672695.1:n.780_783dup
ENST00000672923.2:n.3482+121_3482+124dup
ENST00000268124.9:c.3482+121_3482+124dup	ENSP00000268124.5:n.3482+121_3482+124dup
ENST00000442287.6:c.3482+121_3482+124dup	ENSP00000399851.2:n.3482+121_3482+124dup
ENST00000530292.2:c.566+121_566+124dup	ENSP00000432885.1:n.566+121_566+124dup
ENST00000631044.2:c.*2906+121_*2906+124dup	ENSP00000486730.1:n.*2906+121_*2906+124dup
NM_001126131.1:c.3482+121_3482+124dup	NP_001119603.1:n.3482+121_3482+124dup
NM_002693.2:c.3482+121_3482+124dup	NP_002684.1:n.3482+121_3482+124dup
NM_001126131.2:c.3482+121_3482+124dup	NP_001119603.1:n.3482+121_3482+124dup
NM_002693.3:c.3482+121_3482+124dup MANE Select	NP_002684.1:n.3482+121_3482+124dup