Canonical Allele Identifier: CA2630255696

Gene: POLG

Linked Data

• gnomAD v4: 15-89323531-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323532dup , CM000677.2:g.89323532dup	GRCh38
NC_000015.9:g.89866763dup , CM000677.1:g.89866763dup	GRCh37
NC_000015.8:g.87667767dup	NCBI36
NG_008218.1:g.16264dup
NG_008218.2:g.16264dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2158-21dup	ENSP00000516154.1:n.2158-21dup
ENST00000268124.11:c.2158-21dup MANE Select	ENSP00000268124.5:n.2158-21dup
ENST00000530292.3:c.1759-21dup	ENSP00000432885.2:n.1759-21dup
ENST00000635986.2:c.2158-21dup	ENSP00000490653.2:n.2158-21dup
ENST00000636774.1:c.*725-21dup	ENSP00000489799.1:n.*725-21dup
ENST00000637238.1:c.855-21dup	ENSP00000490756.1:n.855-21dup
ENST00000637264.1:c.1230-21dup
ENST00000666746.1:c.1735-21dup
ENST00000670281.1:c.478-21dup	ENSP00000499709.1:n.478-21dup
ENST00000672071.1:n.2356-21dup
ENST00000672923.2:n.2261-21dup
ENST00000268124.9:c.2158-21dup	ENSP00000268124.5:n.2158-21dup
ENST00000442287.6:c.2158-21dup	ENSP00000399851.2:n.2158-21dup
ENST00000526314.2:c.539+283dup
ENST00000526398.1:c.307-21dup
ENST00000526573.1:n.526dup
ENST00000532584.5:n.360-21dup
ENST00000533857.1:n.555dup
ENST00000631044.2:c.*1561dup	ENSP00000486730.1:n.*1561dup
NM_001126131.1:c.2158-21dup	NP_001119603.1:n.2158-21dup
NM_002693.2:c.2158-21dup	NP_002684.1:n.2158-21dup
NM_001126131.2:c.2158-21dup	NP_001119603.1:n.2158-21dup
NM_002693.3:c.2158-21dup MANE Select	NP_002684.1:n.2158-21dup