Canonical Allele Identifier: CA2805169546

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323621_89323625del , CM000677.2:g.89323621_89323625del	GRCh38
NC_000015.9:g.89866852_89866856del , CM000677.1:g.89866852_89866856del	GRCh37
NC_000015.8:g.87667856_87667860del	NCBI36
NG_008218.1:g.16173_16177del
NG_008218.2:g.16173_16177del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2158-112_2158-108del	ENSP00000516154.1:n.2158-112_2158-108del
ENST00000268124.11:c.2158-112_2158-108del MANE Select	ENSP00000268124.5:n.2158-112_2158-108del
ENST00000530292.3:c.1759-112_1759-108del	ENSP00000432885.2:n.1759-112_1759-108del
ENST00000635986.2:c.2158-112_2158-108del	ENSP00000490653.2:n.2158-112_2158-108del
ENST00000636774.1:c.*725-112_*725-108del	ENSP00000489799.1:n.*725-112_*725-108del
ENST00000637238.1:c.855-112_855-108del	ENSP00000490756.1:n.855-112_855-108del
ENST00000637264.1:c.1230-112_1230-108del
ENST00000666746.1:c.1735-112_1735-108del
ENST00000670281.1:c.478-112_478-108del	ENSP00000499709.1:n.478-112_478-108del
ENST00000672071.1:n.2356-112_2356-108del
ENST00000672923.2:n.2261-112_2261-108del
ENST00000268124.9:c.2158-112_2158-108del	ENSP00000268124.5:n.2158-112_2158-108del
ENST00000442287.6:c.2158-112_2158-108del	ENSP00000399851.2:n.2158-112_2158-108del
ENST00000526314.2:c.539+192_539+196del
ENST00000526398.1:c.307-112_307-108del
ENST00000526573.1:n.435_439del
ENST00000532584.5:n.360-112_360-108del
ENST00000533857.1:n.464_468del
ENST00000631044.2:c.*1541-71_*1541-67del	ENSP00000486730.1:n.*1541-71_*1541-67del
NM_001126131.1:c.2158-112_2158-108del	NP_001119603.1:n.2158-112_2158-108del
NM_002693.2:c.2158-112_2158-108del	NP_002684.1:n.2158-112_2158-108del
NM_001126131.2:c.2158-112_2158-108del	NP_001119603.1:n.2158-112_2158-108del
NM_002693.3:c.2158-112_2158-108del MANE Select	NP_002684.1:n.2158-112_2158-108del