Canonical Allele Identifier: CA2194549008

Gene: POLG

Linked Data

• dbSNP Id: rs2055497517

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325291_89325292insAAGAGA , CM000677.2:g.89325291_89325292insAAGAGA	GRCh38
NC_000015.9:g.89868522_89868523insAAGAGA , CM000677.1:g.89868522_89868523insAAGAGA	GRCh37
NC_000015.8:g.87669526_87669527insAAGAGA	NCBI36
NG_008218.1:g.14509_14510insTTCTCT
NG_008218.2:g.14509_14510insTTCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+163_1949+164insTTCTCT	ENSP00000516154.1:n.1949+163_1949+164insTTCTCT
ENST00000268124.11:c.1949+163_1949+164insTTCTCT MANE Select	ENSP00000268124.5:n.1949+163_1949+164insTTCTCT
ENST00000530292.3:c.1550+163_1550+164insTTCTCT	ENSP00000432885.2:n.1550+163_1550+164insTTCTCT
ENST00000635986.2:c.1949+163_1949+164insTTCTCT	ENSP00000490653.2:n.1949+163_1949+164insTTCTCT
ENST00000636774.1:c.*516+163_*516+164insTTCTCT	ENSP00000489799.1:n.*516+163_*516+164insTTCTCT
ENST00000637238.1:c.646+203_646+204insTTCTCT	ENSP00000490756.1:n.646+203_646+204insTTCTCT
ENST00000637264.1:c.1021+163_1021+164insTTCTCT
ENST00000666746.1:c.1526+163_1526+164insTTCTCT
ENST00000670281.1:c.269+163_269+164insTTCTCT	ENSP00000499709.1:n.269+163_269+164insTTCTCT
ENST00000672071.1:n.2147+163_2147+164insTTCTCT
ENST00000672923.2:n.2052+163_2052+164insTTCTCT
ENST00000268124.9:c.1949+163_1949+164insTTCTCT	ENSP00000268124.5:n.1949+163_1949+164insTTCTCT
ENST00000442287.6:c.1949+163_1949+164insTTCTCT	ENSP00000399851.2:n.1949+163_1949+164insTTCTCT
ENST00000526314.2:c.331+163_331+164insTTCTCT
ENST00000526398.1:c.138+163_138+164insTTCTCT
ENST00000526573.1:n.35+163_35+164insTTCTCT
ENST00000532584.5:n.151+163_151+164insTTCTCT
ENST00000631044.2:c.*1332+163_*1332+164insTTCTCT	ENSP00000486730.1:n.*1332+163_*1332+164insTTCTCT
NM_001126131.1:c.1949+163_1949+164insTTCTCT	NP_001119603.1:n.1949+163_1949+164insTTCTCT
NM_002693.2:c.1949+163_1949+164insTTCTCT	NP_002684.1:n.1949+163_1949+164insTTCTCT
NM_001126131.2:c.1949+163_1949+164insTTCTCT	NP_001119603.1:n.1949+163_1949+164insTTCTCT
NM_002693.3:c.1949+163_1949+164insTTCTCT MANE Select	NP_002684.1:n.1949+163_1949+164insTTCTCT