Canonical Allele Identifier: CA2194548749
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325271_89325277delinsTGAGAGA , CM000677.2:g.89325271_89325277delinsTGAGAGA GRCh38
NC_000015.9:g.89868502_89868508delinsTGAGAGA , CM000677.1:g.89868502_89868508delinsTGAGAGA GRCh37
NC_000015.8:g.87669506_87669512delinsTGAGAGA NCBI36
NG_008218.1:g.14519_14525delinsTCTCTCA
NG_008218.2:g.14519_14525delinsTCTCTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1949+173_1949+179delinsTCTCTCA ENSP00000516154.1:n.1949+173_1949+179delinsTCTCTCA
ENST00000268124.11:c.1949+173_1949+179delinsTCTCTCA MANE Select ENSP00000268124.5:n.1949+173_1949+179delinsTCTCTCA
ENST00000530292.3:c.1550+173_1550+179delinsTCTCTCA ENSP00000432885.2:n.1550+173_1550+179delinsTCTCTCA
ENST00000635986.2:c.1949+173_1949+179delinsTCTCTCA ENSP00000490653.2:n.1949+173_1949+179delinsTCTCTCA
ENST00000636774.1:c.*516+173_*516+179delinsTCTCTCA ENSP00000489799.1:n.*516+173_*516+179delinsTCTCTCA
ENST00000637238.1:c.646+213_646+219delinsTCTCTCA ENSP00000490756.1:n.646+213_646+219delinsTCTCTCA
ENST00000637264.1:c.1021+173_1021+179delinsTCTCTCA
ENST00000666746.1:c.1526+173_1526+179delinsTCTCTCA
ENST00000670281.1:c.269+173_269+179delinsTCTCTCA ENSP00000499709.1:n.269+173_269+179delinsTCTCTCA
ENST00000672071.1:n.2147+173_2147+179delinsTCTCTCA
ENST00000672923.2:n.2052+173_2052+179delinsTCTCTCA
ENST00000268124.9:c.1949+173_1949+179delinsTCTCTCA ENSP00000268124.5:n.1949+173_1949+179delinsTCTCTCA
ENST00000442287.6:c.1949+173_1949+179delinsTCTCTCA ENSP00000399851.2:n.1949+173_1949+179delinsTCTCTCA
ENST00000526314.2:c.331+173_331+179delinsTCTCTCA
ENST00000526398.1:c.138+173_138+179delinsTCTCTCA
ENST00000526573.1:n.35+173_35+179delinsTCTCTCA
ENST00000532584.5:n.151+173_151+179delinsTCTCTCA
ENST00000631044.2:c.*1332+173_*1332+179delinsTCTCTCA ENSP00000486730.1:n.*1332+173_*1332+179delinsTCTCTCA
NM_001126131.1:c.1949+173_1949+179delinsTCTCTCA NP_001119603.1:n.1949+173_1949+179delinsTCTCTCA
NM_002693.2:c.1949+173_1949+179delinsTCTCTCA NP_002684.1:n.1949+173_1949+179delinsTCTCTCA
NM_001126131.2:c.1949+173_1949+179delinsTCTCTCA NP_001119603.1:n.1949+173_1949+179delinsTCTCTCA
NM_002693.3:c.1949+173_1949+179delinsTCTCTCA MANE Select NP_002684.1:n.1949+173_1949+179delinsTCTCTCA