Canonical Allele Identifier: CA645591912

Gene: POLG

Linked Data

• COSMIC: COSM1478456

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323444_89323445insT , CM000677.2:g.89323444_89323445insT	GRCh38
NC_000015.9:g.89866675_89866676insT , CM000677.1:g.89866675_89866676insT	GRCh37
NC_000015.8:g.87667679_87667680insT	NCBI36
NG_008218.1:g.16351_16352insA
NG_008218.2:g.16351_16352insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2224_2225insA	ENSP00000516154.1:p.Val742AspfsTer17
ENST00000268124.11:c.2224_2225insA MANE Select	ENSP00000268124.5:p.Val742AspfsTer17
ENST00000530292.3:c.1825_1826insA	ENSP00000432885.2:p.Val609AspfsTer17
ENST00000635986.2:c.2224_2225insA	ENSP00000490653.2:p.Val742AspfsTer17
ENST00000636774.1:c.*791_*792insA	ENSP00000489799.1:n.*791_*792insA
ENST00000637238.1:c.921_922insA	ENSP00000490756.1:n.921_922insA
ENST00000637264.1:c.1296_1297insA
ENST00000666746.1:c.1801_1802insA
ENST00000670281.1:c.544_545insA	ENSP00000499709.1:p.Val182AspfsTer17
ENST00000672071.1:n.2422_2423insA
ENST00000672923.2:n.2327_2328insA
ENST00000268124.9:c.2224_2225insA	ENSP00000268124.5:p.Val742AspfsTer17
ENST00000442287.6:c.2224_2225insA	ENSP00000399851.2:p.Val742AspfsTer17
ENST00000526314.2:c.539+370_539+371insA
ENST00000526398.1:c.373_374insA
ENST00000532584.5:n.426_427insA
ENST00000631044.2:c.*1648_*1649insA	ENSP00000486730.1:n.*1648_*1649insA
NM_001126131.1:c.2224_2225insA	NP_001119603.1:p.Val742AspfsTer17
NM_002693.2:c.2224_2225insA	NP_002684.1:p.Val742AspfsTer17
NM_001126131.2:c.2224_2225insA	NP_001119603.1:p.Val742AspfsTer17
NM_002693.3:c.2224_2225insA MANE Select	NP_002684.1:p.Val742AspfsTer17