Canonical Allele Identifier: CA619514120

Gene: POLG

Linked Data

• dbSNP Id: rs1170298448
• gnomAD v2: 15-89868502-T-TGA
• gnomAD v3: 15-89325271-T-TGA
• gnomAD v4: 15-89325271-T-TGA
• MyVariant Identifiers: chr15:g.89868515_89868530delinsGAAAGAGAGAGAGAGAGG (hg19) ; chr15:g.89868502_89868503insGA (hg19) ; chr15:g.89325284_89325299delinsGAAAGAGAGAGAGAGAGG (hg38) ; chr15:g.89325271_89325272insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325282_89325283dup , CM000677.2:g.89325282_89325283dup	GRCh38
NC_000015.9:g.89868513_89868514dup , CM000677.1:g.89868513_89868514dup	GRCh37
NC_000015.8:g.87669517_87669518dup	NCBI36
NG_008218.1:g.14523_14524dup
NG_008218.2:g.14523_14524dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+177_1949+178dup	ENSP00000516154.1:n.1949+177_1949+178dup
ENST00000268124.11:c.1949+177_1949+178dup MANE Select	ENSP00000268124.5:n.1949+177_1949+178dup
ENST00000530292.3:c.1550+177_1550+178dup	ENSP00000432885.2:n.1550+177_1550+178dup
ENST00000635986.2:c.1949+177_1949+178dup	ENSP00000490653.2:n.1949+177_1949+178dup
ENST00000636774.1:c.*516+177_*516+178dup	ENSP00000489799.1:n.*516+177_*516+178dup
ENST00000637238.1:c.646+217_646+218dup	ENSP00000490756.1:n.646+217_646+218dup
ENST00000637264.1:c.1021+177_1021+178dup
ENST00000666746.1:c.1526+177_1526+178dup
ENST00000670281.1:c.269+177_269+178dup	ENSP00000499709.1:n.269+177_269+178dup
ENST00000672071.1:n.2147+177_2147+178dup
ENST00000672923.2:n.2052+177_2052+178dup
ENST00000268124.9:c.1949+177_1949+178dup	ENSP00000268124.5:n.1949+177_1949+178dup
ENST00000442287.6:c.1949+177_1949+178dup	ENSP00000399851.2:n.1949+177_1949+178dup
ENST00000526314.2:c.331+177_331+178dup
ENST00000526398.1:c.138+177_138+178dup
ENST00000526573.1:n.35+177_35+178dup
ENST00000532584.5:n.151+177_151+178dup
ENST00000631044.2:c.*1332+177_*1332+178dup	ENSP00000486730.1:n.*1332+177_*1332+178dup
NM_001126131.1:c.1949+177_1949+178dup	NP_001119603.1:n.1949+177_1949+178dup
NM_002693.2:c.1949+177_1949+178dup	NP_002684.1:n.1949+177_1949+178dup
NM_001126131.2:c.1949+177_1949+178dup	NP_001119603.1:n.1949+177_1949+178dup
NM_002693.3:c.1949+177_1949+178dup MANE Select	NP_002684.1:n.1949+177_1949+178dup