Canonical Allele Identifier: CA2194549438

Gene: POLG

Linked Data

• dbSNP Id: rs2055500175

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325341_89325343del , CM000677.2:g.89325341_89325343del	GRCh38
NC_000015.9:g.89868572_89868574del , CM000677.1:g.89868572_89868574del	GRCh37
NC_000015.8:g.87669576_87669578del	NCBI36
NG_008218.1:g.14458_14460del
NG_008218.2:g.14458_14460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+112_1949+114del	ENSP00000516154.1:n.1949+112_1949+114del
ENST00000268124.11:c.1949+112_1949+114del MANE Select	ENSP00000268124.5:n.1949+112_1949+114del
ENST00000530292.3:c.1550+112_1550+114del	ENSP00000432885.2:n.1550+112_1550+114del
ENST00000635986.2:c.1949+112_1949+114del	ENSP00000490653.2:n.1949+112_1949+114del
ENST00000636774.1:c.*516+112_*516+114del	ENSP00000489799.1:n.*516+112_*516+114del
ENST00000637238.1:c.646+152_646+154del	ENSP00000490756.1:n.646+152_646+154del
ENST00000637264.1:c.1021+112_1021+114del
ENST00000666746.1:c.1526+112_1526+114del
ENST00000670281.1:c.269+112_269+114del	ENSP00000499709.1:n.269+112_269+114del
ENST00000672071.1:n.2147+112_2147+114del
ENST00000672923.2:n.2052+112_2052+114del
ENST00000268124.9:c.1949+112_1949+114del	ENSP00000268124.5:n.1949+112_1949+114del
ENST00000442287.6:c.1949+112_1949+114del	ENSP00000399851.2:n.1949+112_1949+114del
ENST00000526314.2:c.331+112_331+114del
ENST00000526398.1:c.138+112_138+114del
ENST00000526573.1:n.35+112_35+114del
ENST00000532584.5:n.151+112_151+114del
ENST00000631044.2:c.*1332+112_*1332+114del	ENSP00000486730.1:n.*1332+112_*1332+114del
NM_001126131.1:c.1949+112_1949+114del	NP_001119603.1:n.1949+112_1949+114del
NM_002693.2:c.1949+112_1949+114del	NP_002684.1:n.1949+112_1949+114del
NM_001126131.2:c.1949+112_1949+114del	NP_001119603.1:n.1949+112_1949+114del
NM_002693.3:c.1949+112_1949+114del MANE Select	NP_002684.1:n.1949+112_1949+114del