Canonical Allele Identifier: CA2194550018

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325511_89325512delinsTG , CM000677.2:g.89325511_89325512delinsTG	GRCh38
NC_000015.9:g.89868742_89868743delinsTG , CM000677.1:g.89868742_89868743delinsTG	GRCh37
NC_000015.8:g.87669746_87669747delinsTG	NCBI36
NG_008218.1:g.14284_14285delinsCA
NG_008218.2:g.14284_14285delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1887_1888delinsCA	ENSP00000516154.1:p.Asp629=
ENST00000268124.11:c.1887_1888delinsCA MANE Select	ENSP00000268124.5:p.Asp629=
ENST00000530292.3:c.1488_1489delinsCA	ENSP00000432885.2:p.Asp496=
ENST00000635986.2:c.1887_1888delinsCA	ENSP00000490653.2:p.Asp629=
ENST00000636774.1:c.*454_*455delinsCA	ENSP00000489799.1:n.*454_*455delinsCA
ENST00000637238.1:c.624_625delinsCA	ENSP00000490756.1:p.Asp208=
ENST00000637264.1:c.959_960delinsCA
ENST00000666746.1:c.1464_1465delinsCA
ENST00000670281.1:c.207_208delinsCA	ENSP00000499709.1:p.Asp69=
ENST00000672071.1:n.2085_2086delinsCA
ENST00000672923.2:n.1990_1991delinsCA
ENST00000268124.9:c.1887_1888delinsCA	ENSP00000268124.5:p.Asp629=
ENST00000442287.6:c.1887_1888delinsCA	ENSP00000399851.2:p.Asp629=
ENST00000526314.2:c.269_270delinsCA
ENST00000526398.1:c.76_77delinsCA
ENST00000532584.5:n.89_90delinsCA
ENST00000631044.2:c.*1270_*1271delinsCA	ENSP00000486730.1:n.*1270_*1271delinsCA
NM_001126131.1:c.1887_1888delinsCA	NP_001119603.1:p.Asp629=
NM_002693.2:c.1887_1888delinsCA	NP_002684.1:p.Asp629=
NM_001126131.2:c.1887_1888delinsCA	NP_001119603.1:p.Asp629=
NM_002693.3:c.1887_1888delinsCA MANE Select	NP_002684.1:p.Asp629=