Canonical Allele Identifier: CA2194548785

Gene: POLG

Linked Data

• dbSNP Id: rs2055495900
• gnomAD v3: 15-89325271-T-TGAGAGAGAGAGAAA
• gnomAD v4: 15-89325271-T-TGAGAGAGAGAGAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325284_89325297dup , CM000677.2:g.89325284_89325297dup	GRCh38
NC_000015.9:g.89868515_89868528dup , CM000677.1:g.89868515_89868528dup	GRCh37
NC_000015.8:g.87669519_87669532dup	NCBI36
NG_008218.1:g.14511_14524dup
NG_008218.2:g.14511_14524dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+165_1949+178dup	ENSP00000516154.1:n.1949+165_1949+178dup
ENST00000268124.11:c.1949+165_1949+178dup MANE Select	ENSP00000268124.5:n.1949+165_1949+178dup
ENST00000530292.3:c.1550+165_1550+178dup	ENSP00000432885.2:n.1550+165_1550+178dup
ENST00000635986.2:c.1949+165_1949+178dup	ENSP00000490653.2:n.1949+165_1949+178dup
ENST00000636774.1:c.*516+165_*516+178dup	ENSP00000489799.1:n.*516+165_*516+178dup
ENST00000637238.1:c.646+205_646+218dup	ENSP00000490756.1:n.646+205_646+218dup
ENST00000637264.1:c.1021+165_1021+178dup
ENST00000666746.1:c.1526+165_1526+178dup
ENST00000670281.1:c.269+165_269+178dup	ENSP00000499709.1:n.269+165_269+178dup
ENST00000672071.1:n.2147+165_2147+178dup
ENST00000672923.2:n.2052+165_2052+178dup
ENST00000268124.9:c.1949+165_1949+178dup	ENSP00000268124.5:n.1949+165_1949+178dup
ENST00000442287.6:c.1949+165_1949+178dup	ENSP00000399851.2:n.1949+165_1949+178dup
ENST00000526314.2:c.331+165_331+178dup
ENST00000526398.1:c.138+165_138+178dup
ENST00000526573.1:n.35+165_35+178dup
ENST00000532584.5:n.151+165_151+178dup
ENST00000631044.2:c.*1332+165_*1332+178dup	ENSP00000486730.1:n.*1332+165_*1332+178dup
NM_001126131.1:c.1949+165_1949+178dup	NP_001119603.1:n.1949+165_1949+178dup
NM_002693.2:c.1949+165_1949+178dup	NP_002684.1:n.1949+165_1949+178dup
NM_001126131.2:c.1949+165_1949+178dup	NP_001119603.1:n.1949+165_1949+178dup
NM_002693.3:c.1949+165_1949+178dup MANE Select	NP_002684.1:n.1949+165_1949+178dup