Canonical Allele Identifier: CA2194554857

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323288_89323291delinsCACT , CM000677.2:g.89323288_89323291delinsCACT	GRCh38
NC_000015.9:g.89866519_89866522delinsCACT , CM000677.1:g.89866519_89866522delinsCACT	GRCh37
NC_000015.8:g.87667523_87667526delinsCACT	NCBI36
NG_008218.1:g.16505_16508delinsAGTG
NG_008218.2:g.16505_16508delinsAGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2265+113_2265+116delinsAGTG	ENSP00000516154.1:n.2265+113_2265+116deli...
ENST00000268124.11:c.2265+113_2265+116delinsAGTG MANE Select	ENSP00000268124.5:n.2265+113_2265+116deli...
ENST00000530292.3:c.1866+113_1866+116delinsAGTG	ENSP00000432885.2:n.1866+113_1866+116deli...
ENST00000635986.2:c.2265+113_2265+116delinsAGTG	ENSP00000490653.2:n.2265+113_2265+116deli...
ENST00000636774.1:c.*832+113_*832+116delinsAGTG	ENSP00000489799.1:n.*832+113_*832+116deli...
ENST00000637238.1:c.962+113_962+116delinsAGTG	ENSP00000490756.1:n.962+113_962+116delins...
ENST00000637264.1:c.1337+113_1337+116delinsAGTG
ENST00000666746.1:c.1842+113_1842+116delinsAGTG
ENST00000670281.1:c.585+113_585+116delinsAGTG	ENSP00000499709.1:n.585+113_585+116delins...
ENST00000672071.1:n.2463+113_2463+116delinsAGTG
ENST00000672923.2:n.2368+113_2368+116delinsAGTG
ENST00000268124.9:c.2265+113_2265+116delinsAGTG	ENSP00000268124.5:n.2265+113_2265+116deli...
ENST00000442287.6:c.2265+113_2265+116delinsAGTG	ENSP00000399851.2:n.2265+113_2265+116deli...
ENST00000526314.2:c.540-389_540-386delinsAGTG
ENST00000526398.1:c.414+113_414+116delinsAGTG
ENST00000528881.2:c.34+113_34+116delinsAGTG
ENST00000530715.5:c.24+113_24+116delinsAGTG	ENSP00000431395.1:n.24+113_24+116delinsAG...
ENST00000532584.5:n.467+113_467+116delinsAGTG
ENST00000631044.2:c.*1689+113_*1689+116delinsAGTG	ENSP00000486730.1:n.*1689+113_*1689+116de...
NM_001126131.1:c.2265+113_2265+116delinsAGTG	NP_001119603.1:n.2265+113_2265+116delinsA...
NM_002693.2:c.2265+113_2265+116delinsAGTG	NP_002684.1:n.2265+113_2265+116delinsAGTG...
NM_001126131.2:c.2265+113_2265+116delinsAGTG	NP_001119603.1:n.2265+113_2265+116delinsA...
NM_002693.3:c.2265+113_2265+116delinsAGTG MANE Select	NP_002684.1:n.2265+113_2265+116delinsAGTG...