Canonical Allele Identifier: CA2194562253

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328895_89328896delinsAG , CM000677.2:g.89328895_89328896delinsAG	GRCh38
NC_000015.9:g.89872126_89872127delinsAG , CM000677.1:g.89872126_89872127delinsAG	GRCh37
NC_000015.8:g.87673130_87673131delinsAG	NCBI36
NG_008218.1:g.10900_10901delinsCT
NG_008218.2:g.10900_10901delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1023+47_1023+48delinsCT	ENSP00000516154.1:n.1023+47_1023+48delinsCT
ENST00000268124.11:c.1023+47_1023+48delinsCT MANE Select	ENSP00000268124.5:n.1023+47_1023+48delinsCT
ENST00000530292.3:c.624+47_624+48delinsCT	ENSP00000432885.2:n.624+47_624+48delinsCT
ENST00000635986.2:c.1023+47_1023+48delinsCT	ENSP00000490653.2:n.1023+47_1023+48delinsCT
ENST00000636774.1:c.1023+47_1023+48delinsCT	ENSP00000489799.1:n.1023+47_1023+48delinsCT
ENST00000637264.1:c.95+47_95+48delinsCT
ENST00000666746.1:c.680+47_680+48delinsCT
ENST00000672071.1:n.1221+47_1221+48delinsCT
ENST00000672923.2:n.20+47_20+48delinsCT
ENST00000268124.9:c.1023+47_1023+48delinsCT	ENSP00000268124.5:n.1023+47_1023+48delinsCT
ENST00000442287.6:c.1023+47_1023+48delinsCT	ENSP00000399851.2:n.1023+47_1023+48delinsCT
ENST00000631044.2:c.*406+47_*406+48delinsCT	ENSP00000486730.1:n.*406+47_*406+48delinsCT
NM_001126131.1:c.1023+47_1023+48delinsCT	NP_001119603.1:n.1023+47_1023+48delinsCT
NM_002693.2:c.1023+47_1023+48delinsCT	NP_002684.1:n.1023+47_1023+48delinsCT
NM_001126131.2:c.1023+47_1023+48delinsCT	NP_001119603.1:n.1023+47_1023+48delinsCT
NM_002693.3:c.1023+47_1023+48delinsCT MANE Select	NP_002684.1:n.1023+47_1023+48delinsCT