Canonical Allele Identifier: CA2575828573

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318459_89318460del , CM000677.2:g.89318459_89318460del	GRCh38
NC_000015.9:g.89861690_89861691del , CM000677.1:g.89861690_89861691del	GRCh37
NC_000015.8:g.87662694_87662695del	NCBI36
NG_008218.1:g.21336_21337del
NG_011736.1:g.79497_79498del , LRG_500:g.79497_79498del
NG_008218.2:g.21336_21337del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+81_3482+82del	ENSP00000516154.1:n.3482+81_3482+82del
ENST00000268124.11:c.3482+81_3482+82del MANE Select	ENSP00000268124.5:n.3482+81_3482+82del
ENST00000530292.3:c.3083+81_3083+82del	ENSP00000432885.2:n.3083+81_3083+82del
ENST00000635986.2:c.*552+81_*552+82del	ENSP00000490653.2:n.*552+81_*552+82del
ENST00000636774.1:c.*2049+81_*2049+82del	ENSP00000489799.1:n.*2049+81_*2049+82del
ENST00000637238.1:c.2291+81_2291+82del	ENSP00000490756.1:n.2291+81_2291+82del
ENST00000637264.1:c.2554+81_2554+82del
ENST00000666746.1:c.3059+81_3059+82del
ENST00000672071.1:n.3761_3762del
ENST00000672695.1:n.740_741del
ENST00000672923.2:n.3482+81_3482+82del
ENST00000268124.9:c.3482+81_3482+82del	ENSP00000268124.5:n.3482+81_3482+82del
ENST00000442287.6:c.3482+81_3482+82del	ENSP00000399851.2:n.3482+81_3482+82del
ENST00000530292.2:c.566+81_566+82del	ENSP00000432885.1:n.566+81_566+82del
ENST00000631044.2:c.*2906+81_*2906+82del	ENSP00000486730.1:n.*2906+81_*2906+82del
NM_001126131.1:c.3482+81_3482+82del	NP_001119603.1:n.3482+81_3482+82del
NM_002693.2:c.3482+81_3482+82del	NP_002684.1:n.3482+81_3482+82del
NM_001126131.2:c.3482+81_3482+82del	NP_001119603.1:n.3482+81_3482+82del
NM_002693.3:c.3482+81_3482+82del MANE Select	NP_002684.1:n.3482+81_3482+82del