Canonical Allele Identifier: CA2194562468

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328943_89328944delinsCG , CM000677.2:g.89328943_89328944delinsCG	GRCh38
NC_000015.9:g.89872174_89872175delinsCG , CM000677.1:g.89872174_89872175delinsCG	GRCh37
NC_000015.8:g.87673178_87673179delinsCG	NCBI36
NG_008218.1:g.10852_10853delinsCG
NG_008218.2:g.10852_10853delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1022_1023delinsCG	ENSP00000516154.1:p.Ala341=
ENST00000268124.11:c.1022_1023delinsCG MANE Select	ENSP00000268124.5:p.Ala341=
ENST00000530292.3:c.623_624delinsCG	ENSP00000432885.2:p.Ala208=
ENST00000635986.2:c.1022_1023delinsCG	ENSP00000490653.2:p.Ala341=
ENST00000636774.1:c.1022_1023delinsCG	ENSP00000489799.1:p.Ala341=
ENST00000637264.1:c.94_95delinsCG
ENST00000666746.1:c.679_680delinsCG
ENST00000672071.1:n.1220_1221delinsCG
ENST00000672923.2:n.19_20delinsCG
ENST00000268124.9:c.1022_1023delinsCG	ENSP00000268124.5:p.Ala341=
ENST00000442287.6:c.1022_1023delinsCG	ENSP00000399851.2:p.Ala341=
ENST00000631044.2:c.*405_*406delinsCG	ENSP00000486730.1:n.*405_*406delinsCG
NM_001126131.1:c.1022_1023delinsCG	NP_001119603.1:p.Ala341=
NM_002693.2:c.1022_1023delinsCG	NP_002684.1:p.Ala341=
NM_001126131.2:c.1022_1023delinsCG	NP_001119603.1:p.Ala341=
NM_002693.3:c.1022_1023delinsCG MANE Select	NP_002684.1:p.Ala341=