Canonical Allele Identifier: CA2575828628

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318629_89318642del , CM000677.2:g.89318629_89318642del	GRCh38
NC_000015.9:g.89861860_89861873del , CM000677.1:g.89861860_89861873del	GRCh37
NC_000015.8:g.87662864_87662877del	NCBI36
NG_008218.1:g.21156_21169del
NG_011736.1:g.79667_79680del , LRG_500:g.79667_79680del
NG_008218.2:g.21156_21169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3383_3396del	ENSP00000516154.1:p.Arg1128HisfsTer3
ENST00000268124.11:c.3383_3396del MANE Select	ENSP00000268124.5:p.Arg1128HisfsTer3
ENST00000530292.3:c.2984_2997del	ENSP00000432885.2:p.Arg995HisfsTer3
ENST00000635986.2:c.*453_*466del	ENSP00000490653.2:n.*453_*466del
ENST00000636774.1:c.*1950_*1963del	ENSP00000489799.1:n.*1950_*1963del
ENST00000637238.1:c.2192_2205del	ENSP00000490756.1:n.2192_2205del
ENST00000637264.1:c.2455_2468del
ENST00000666746.1:c.2960_2973del
ENST00000672071.1:n.3581_3594del
ENST00000672695.1:n.560_573del
ENST00000672923.2:n.3383_3396del
ENST00000268124.9:c.3383_3396del	ENSP00000268124.5:p.Arg1128HisfsTer3
ENST00000442287.6:c.3383_3396del	ENSP00000399851.2:p.Arg1128HisfsTer3
ENST00000530292.2:c.467_480del	ENSP00000432885.1:p.Arg156HisfsTer3
ENST00000631044.2:c.*2807_*2820del	ENSP00000486730.1:n.*2807_*2820del
NM_001126131.1:c.3383_3396del	NP_001119603.1:p.Arg1128HisfsTer3
NM_002693.2:c.3383_3396del	NP_002684.1:p.Arg1128HisfsTer3
NM_001126131.2:c.3383_3396del	NP_001119603.1:p.Arg1128HisfsTer3
NM_002693.3:c.3383_3396del MANE Select	NP_002684.1:p.Arg1128HisfsTer3