Canonical Allele Identifier: CA2194555368

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323448_89323451delinsCGTT , CM000677.2:g.89323448_89323451delinsCGTT	GRCh38
NC_000015.9:g.89866679_89866682delinsCGTT , CM000677.1:g.89866679_89866682delinsCGTT	GRCh37
NC_000015.8:g.87667683_87667686delinsCGTT	NCBI36
NG_008218.1:g.16345_16348delinsAACG
NG_008218.2:g.16345_16348delinsAACG

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2218_2221delinsAACG	ENSP00000516154.1:p.Asn740=
ENST00000268124.11:c.2218_2221delinsAACG MANE Select	ENSP00000268124.5:p.Asn740=
ENST00000530292.3:c.1819_1822delinsAACG	ENSP00000432885.2:p.Asn607=
ENST00000635986.2:c.2218_2221delinsAACG	ENSP00000490653.2:p.Asn740=
ENST00000636774.1:c.*785_*788delinsAACG	ENSP00000489799.1:n.*785_*788delinsAACG
ENST00000637238.1:c.915_918delinsAACG	ENSP00000490756.1:n.915_918delinsAACG
ENST00000637264.1:c.1290_1293delinsAACG
ENST00000666746.1:c.1795_1798delinsAACG
ENST00000670281.1:c.538_541delinsAACG	ENSP00000499709.1:p.Asn180=
ENST00000672071.1:n.2416_2419delinsAACG
ENST00000672923.2:n.2321_2324delinsAACG
ENST00000268124.9:c.2218_2221delinsAACG	ENSP00000268124.5:p.Asn740=
ENST00000442287.6:c.2218_2221delinsAACG	ENSP00000399851.2:p.Asn740=
ENST00000526314.2:c.539+364_539+367delinsAACG
ENST00000526398.1:c.367_370delinsAACG
ENST00000532584.5:n.420_423delinsAACG
ENST00000631044.2:c.*1642_*1645delinsAACG	ENSP00000486730.1:n.*1642_*1645delinsAACG...
NM_001126131.1:c.2218_2221delinsAACG	NP_001119603.1:p.Asn740=
NM_002693.2:c.2218_2221delinsAACG	NP_002684.1:p.Asn740=
NM_001126131.2:c.2218_2221delinsAACG	NP_001119603.1:p.Asn740=
NM_002693.3:c.2218_2221delinsAACG MANE Select	NP_002684.1:p.Asn740=