Canonical Allele Identifier: CA2575828482
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323512_89323513del , CM000677.2:g.89323512_89323513del GRCh38
NC_000015.9:g.89866743_89866744del , CM000677.1:g.89866743_89866744del GRCh37
NC_000015.8:g.87667747_87667748del NCBI36
NG_008218.1:g.16284_16285del
NG_008218.2:g.16284_16285del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2158-1_2158del
ENST00000268124.11:c.2158-1_2158del
ENST00000530292.3:c.1759-1_1759del
ENST00000635986.2:c.2158-1_2158del
ENST00000636774.1:c.*725-1_*725del
ENST00000637238.1:c.855-1_855del
ENST00000637264.1:c.1230-1_1230del
ENST00000666746.1:c.1735-1_1735del
ENST00000670281.1:c.478-1_478del
ENST00000672071.1:n.2356-1_2356del
ENST00000672923.2:n.2261-1_2261del
ENST00000268124.9:c.2158-1_2158del
ENST00000442287.6:c.2158-1_2158del
ENST00000526314.2:c.539+303_539+304del
ENST00000526398.1:c.307-1_307del
ENST00000532584.5:n.360-1_360del
ENST00000631044.2:c.*1581_*1582del ENSP00000486730.1:n.*1581_*1582del
NM_001126131.1:c.2158-1_2158del
NM_002693.2:c.2158-1_2158del
NM_001126131.2:c.2158-1_2158del
NM_002693.3:c.2158-1_2158del