Canonical Allele Identifier: CA972593048

Gene: POLG

Linked Data

• dbSNP Id: rs2055337880
• gnomAD v3: 15-89318402-T-TAGAA
• gnomAD v4: 15-89318402-T-TAGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318404_89318407dup , CM000677.2:g.89318404_89318407dup	GRCh38
NC_000015.9:g.89861635_89861638dup , CM000677.1:g.89861635_89861638dup	GRCh37
NC_000015.8:g.87662639_87662642dup	NCBI36
NG_008218.1:g.21390_21393dup
NG_011736.1:g.79442_79445dup , LRG_500:g.79442_79445dup
NG_008218.2:g.21390_21393dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+135_3482+138dup	ENSP00000516154.1:n.3482+135_3482+138dup
ENST00000268124.11:c.3482+135_3482+138dup MANE Select	ENSP00000268124.5:n.3482+135_3482+138dup
ENST00000530292.3:c.3083+135_3083+138dup	ENSP00000432885.2:n.3083+135_3083+138dup
ENST00000635986.2:c.*552+135_*552+138dup	ENSP00000490653.2:n.*552+135_*552+138dup
ENST00000636774.1:c.*2049+135_*2049+138dup	ENSP00000489799.1:n.*2049+135_*2049+138dup
ENST00000637238.1:c.2291+135_2291+138dup	ENSP00000490756.1:n.2291+135_2291+138dup
ENST00000637264.1:c.2554+135_2554+138dup
ENST00000666746.1:c.3059+135_3059+138dup
ENST00000672071.1:n.3815_3818dup
ENST00000672695.1:n.794_797dup
ENST00000672923.2:n.3482+135_3482+138dup
ENST00000268124.9:c.3482+135_3482+138dup	ENSP00000268124.5:n.3482+135_3482+138dup
ENST00000442287.6:c.3482+135_3482+138dup	ENSP00000399851.2:n.3482+135_3482+138dup
ENST00000530292.2:c.566+135_566+138dup	ENSP00000432885.1:n.566+135_566+138dup
ENST00000631044.2:c.*2906+135_*2906+138dup	ENSP00000486730.1:n.*2906+135_*2906+138dup
NM_001126131.1:c.3482+135_3482+138dup	NP_001119603.1:n.3482+135_3482+138dup
NM_002693.2:c.3482+135_3482+138dup	NP_002684.1:n.3482+135_3482+138dup
NM_001126131.2:c.3482+135_3482+138dup	NP_001119603.1:n.3482+135_3482+138dup
NM_002693.3:c.3482+135_3482+138dup MANE Select	NP_002684.1:n.3482+135_3482+138dup