Canonical Allele Identifier: CA972589828

Gene: POLG

Linked Data

• dbSNP Id: rs2055495763
• gnomAD v3: 15-89325271-T-TGAGAGAGAGAGTGAGTGAGAGTGAGAGAGAGA
• gnomAD v4: 15-89325271-T-TGAGAGAGAGAGTGAGTGAGAGTGAGAGAGAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325282_89325283insTGAGTGAGAGTGAGAGAGAGAGAGAGAGAGAG , CM000677.2:g.89325282_89325283insTGAGTGAGAGTGAGAGAGAGAGAGAGAGAGAG	GRCh38
NC_000015.9:g.89868513_89868514insTGAGTGAGAGTGAGAGAGAGAGAGAGAGAGAG , CM000677.1:g.89868513_89868514insTGAGTGAGAGTGAGAGAGAGAGAGAGAGAGAG	GRCh37
NC_000015.8:g.87669517_87669518insTGAGTGAGAGTGAGAGAGAGAGAGAGAGAGAG	NCBI36
NG_008218.1:g.14524_14525insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC
NG_008218.2:g.14524_14525insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+178_1949+179insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC	ENSP00000516154.1:n.1949+178_1949+179insTCTCTCTCTCACTCTCACTCA...
ENST00000268124.11:c.1949+178_1949+179insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC MANE Select	ENSP00000268124.5:n.1949+178_1949+179insTCTCTCTCTCACTCTCACTCA...
ENST00000530292.3:c.1550+178_1550+179insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC	ENSP00000432885.2:n.1550+178_1550+179insTCTCTCTCTCACTCTCACTCA...
ENST00000635986.2:c.1949+178_1949+179insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC	ENSP00000490653.2:n.1949+178_1949+179insTCTCTCTCTCACTCTCACTCA...
ENST00000636774.1:c.*516+178_*516+179insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC	ENSP00000489799.1:n.*516+178_*516+179insTCTCTCTCTCACTCTCACTCA...
ENST00000637238.1:c.646+218_646+219insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC	ENSP00000490756.1:n.646+218_646+219insTCTCTCTCTCACTCTCACTCACT...
ENST00000637264.1:c.1021+178_1021+179insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC
ENST00000666746.1:c.1526+178_1526+179insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC
ENST00000670281.1:c.269+178_269+179insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC	ENSP00000499709.1:n.269+178_269+179insTCTCTCTCTCACTCTCACTCACT...
ENST00000672071.1:n.2147+178_2147+179insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC
ENST00000672923.2:n.2052+178_2052+179insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC
ENST00000268124.9:c.1949+178_1949+179insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC	ENSP00000268124.5:n.1949+178_1949+179insTCTCTCTCTCACTCTCACTCA...
ENST00000442287.6:c.1949+178_1949+179insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC	ENSP00000399851.2:n.1949+178_1949+179insTCTCTCTCTCACTCTCACTCA...
ENST00000526314.2:c.331+178_331+179insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC
ENST00000526398.1:c.138+178_138+179insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC
ENST00000526573.1:n.35+178_35+179insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC
ENST00000532584.5:n.151+178_151+179insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC
ENST00000631044.2:c.*1332+178_*1332+179insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC	ENSP00000486730.1:n.*1332+178_*1332+179insTCTCTCTCTCACTCTCACT...
NM_001126131.1:c.1949+178_1949+179insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC	NP_001119603.1:n.1949+178_1949+179insTCTCTCTCTCACTCTCACTCACTC...
NM_002693.2:c.1949+178_1949+179insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC	NP_002684.1:n.1949+178_1949+179insTCTCTCTCTCACTCTCACTCACTCTCT...
NM_001126131.2:c.1949+178_1949+179insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC	NP_001119603.1:n.1949+178_1949+179insTCTCTCTCTCACTCTCACTCACTC...
NM_002693.3:c.1949+178_1949+179insTCTCTCTCTCACTCTCACTCACTCTCTCTCTC MANE Select	NP_002684.1:n.1949+178_1949+179insTCTCTCTCTCACTCTCACTCACTCTCT...