Canonical Allele Identifier: CA2805169503

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323182_89323183del , CM000677.2:g.89323182_89323183del	GRCh38
NC_000015.9:g.89866413_89866414del , CM000677.1:g.89866413_89866414del	GRCh37
NC_000015.8:g.87667417_87667418del	NCBI36
NG_008218.1:g.16614_16615del
NG_008218.2:g.16614_16615del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2265+222_2265+223del	ENSP00000516154.1:n.2265+222_2265+223del
ENST00000268124.11:c.2265+222_2265+223del MANE Select	ENSP00000268124.5:n.2265+222_2265+223del
ENST00000530292.3:c.1866+222_1866+223del	ENSP00000432885.2:n.1866+222_1866+223del
ENST00000635986.2:c.2265+222_2265+223del	ENSP00000490653.2:n.2265+222_2265+223del
ENST00000636774.1:c.*832+222_*832+223del	ENSP00000489799.1:n.*832+222_*832+223del
ENST00000637238.1:c.962+222_962+223del	ENSP00000490756.1:n.962+222_962+223del
ENST00000637264.1:c.1337+222_1337+223del
ENST00000666746.1:c.1842+222_1842+223del
ENST00000670281.1:c.585+222_585+223del	ENSP00000499709.1:n.585+222_585+223del
ENST00000672071.1:n.2463+222_2463+223del
ENST00000672923.2:n.2368+222_2368+223del
ENST00000268124.9:c.2265+222_2265+223del	ENSP00000268124.5:n.2265+222_2265+223del
ENST00000442287.6:c.2265+222_2265+223del	ENSP00000399851.2:n.2265+222_2265+223del
ENST00000526314.2:c.540-280_540-279del
ENST00000526398.1:c.414+222_414+223del
ENST00000528881.2:c.34+222_34+223del
ENST00000530715.5:c.24+222_24+223del	ENSP00000431395.1:n.24+222_24+223del
ENST00000532584.5:n.467+222_467+223del
ENST00000631044.2:c.*1689+222_*1689+223del	ENSP00000486730.1:n.*1689+222_*1689+223del
NM_001126131.1:c.2265+222_2265+223del	NP_001119603.1:n.2265+222_2265+223del
NM_002693.2:c.2265+222_2265+223del	NP_002684.1:n.2265+222_2265+223del
NM_001126131.2:c.2265+222_2265+223del	NP_001119603.1:n.2265+222_2265+223del
NM_002693.3:c.2265+222_2265+223del MANE Select	NP_002684.1:n.2265+222_2265+223del