Canonical Allele Identifier: CA619512956

Gene: POLG

Linked Data

• ClinVar Variation Id: 577990
• ClinVar RCV Id: RCV000700867 ; RCV001775973
• dbSNP Id: rs1282521429
• gnomAD v2: 15-89866669-A-ATGTCCACGTCGTTG
• gnomAD v3: 15-89323438-A-ATGTCCACGTCGTTG
• gnomAD v4: 15-89323438-A-ATGTCCACGTCGTTG
• MyVariant Identifiers: chr15:g.89866670_89866683dup (hg19) ; chr15:g.89866669_89866670insTGTCCACGTCGTTG (hg19) ; chr15:g.89323439_89323452dup (hg38) ; chr15:g.89323438_89323439insTGTCCACGTCGTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323440_89323453dup , CM000677.2:g.89323440_89323453dup	GRCh38
NC_000015.9:g.89866671_89866684dup , CM000677.1:g.89866671_89866684dup	GRCh37
NC_000015.8:g.87667675_87667688dup	NCBI36
NG_008218.1:g.16344_16357dup
NG_008218.2:g.16344_16357dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2217_2230dup	ENSP00000516154.1:p.Ile744ThrfsTer?
ENST00000268124.11:c.2217_2230dup MANE Select	ENSP00000268124.5:p.Ile744ThrfsTer?
ENST00000530292.3:c.1818_1831dup	ENSP00000432885.2:p.Ile611ThrfsTer?
ENST00000635986.2:c.2217_2230dup	ENSP00000490653.2:p.Ile744ThrfsTer?
ENST00000636774.1:c.*784_*797dup	ENSP00000489799.1:n.*784_*797dup
ENST00000637238.1:c.914_927dup	ENSP00000490756.1:n.914_927dup
ENST00000637264.1:c.1289_1302dup
ENST00000666746.1:c.1794_1807dup
ENST00000670281.1:c.537_550dup	ENSP00000499709.1:p.Ile184ThrfsTer?
ENST00000672071.1:n.2415_2428dup
ENST00000672923.2:n.2320_2333dup
ENST00000268124.9:c.2217_2230dup	ENSP00000268124.5:p.Ile744ThrfsTer?
ENST00000442287.6:c.2217_2230dup	ENSP00000399851.2:p.Ile744ThrfsTer?
ENST00000526314.2:c.539+363_539+376dup
ENST00000526398.1:c.366_379dup
ENST00000532584.5:n.419_432dup
ENST00000631044.2:c.*1641_*1654dup	ENSP00000486730.1:n.*1641_*1654dup
NM_001126131.1:c.2217_2230dup	NP_001119603.1:p.Ile744ThrfsTer?
NM_002693.2:c.2217_2230dup	NP_002684.1:p.Ile744ThrfsTer?
NM_001126131.2:c.2217_2230dup	NP_001119603.1:p.Ile744ThrfsTer?
NM_002693.3:c.2217_2230dup MANE Select	NP_002684.1:p.Ile744ThrfsTer?