Canonical Allele Identifier: CA2194555494

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323474_89323479delinsTAGCTG , CM000677.2:g.89323474_89323479delinsTAGCTG	GRCh38
NC_000015.9:g.89866705_89866710delinsTAGCTG , CM000677.1:g.89866705_89866710delinsTAGCTG	GRCh37
NC_000015.8:g.87667709_87667714delinsTAGCTG	NCBI36
NG_008218.1:g.16317_16322delinsCAGCTA
NG_008218.2:g.16317_16322delinsCAGCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2190_2195delinsCAGCTA	ENSP00000516154.1:p.Pro730=
ENST00000268124.11:c.2190_2195delinsCAGCTA MANE Select	ENSP00000268124.5:p.Pro730=
ENST00000530292.3:c.1791_1796delinsCAGCTA	ENSP00000432885.2:p.Pro597=
ENST00000635986.2:c.2190_2195delinsCAGCTA	ENSP00000490653.2:p.Pro730=
ENST00000636774.1:c.*757_*762delinsCAGCTA	ENSP00000489799.1:n.*757_*762delinsCAGCTA
ENST00000637238.1:c.887_892delinsCAGCTA	ENSP00000490756.1:n.887_892delinsCAGCTA
ENST00000637264.1:c.1262_1267delinsCAGCTA
ENST00000666746.1:c.1767_1772delinsCAGCTA
ENST00000670281.1:c.510_515delinsCAGCTA	ENSP00000499709.1:p.Pro170=
ENST00000672071.1:n.2388_2393delinsCAGCTA
ENST00000672923.2:n.2293_2298delinsCAGCTA
ENST00000268124.9:c.2190_2195delinsCAGCTA	ENSP00000268124.5:p.Pro730=
ENST00000442287.6:c.2190_2195delinsCAGCTA	ENSP00000399851.2:p.Pro730=
ENST00000526314.2:c.539+336_539+341delinsCAGCTA
ENST00000526398.1:c.339_344delinsCAGCTA
ENST00000532584.5:n.392_397delinsCAGCTA
ENST00000631044.2:c.*1614_*1619delinsCAGCTA	ENSP00000486730.1:n.*1614_*1619delinsCAGCTA
NM_001126131.1:c.2190_2195delinsCAGCTA	NP_001119603.1:p.Pro730=
NM_002693.2:c.2190_2195delinsCAGCTA	NP_002684.1:p.Pro730=
NM_001126131.2:c.2190_2195delinsCAGCTA	NP_001119603.1:p.Pro730=
NM_002693.3:c.2190_2195delinsCAGCTA MANE Select	NP_002684.1:p.Pro730=