Canonical Allele Identifier: CA2805170178

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325167_89325282del , CM000677.2:g.89325167_89325282del	GRCh38
NC_000015.9:g.89868398_89868513del , CM000677.1:g.89868398_89868513del	GRCh37
NC_000015.8:g.87669402_87669517del	NCBI36
NG_008218.1:g.14517_14632del
NG_008218.2:g.14517_14632del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+171_1949+286del	ENSP00000516154.1:n.1949+171_1949+286del
ENST00000268124.11:c.1949+171_1949+286del MANE Select	ENSP00000268124.5:n.1949+171_1949+286del
ENST00000530292.3:c.1550+171_1550+286del	ENSP00000432885.2:n.1550+171_1550+286del
ENST00000635986.2:c.1949+171_1949+286del	ENSP00000490653.2:n.1949+171_1949+286del
ENST00000636774.1:c.*516+171_*516+286del	ENSP00000489799.1:n.*516+171_*516+286del
ENST00000637238.1:c.646+211_646+326del	ENSP00000490756.1:n.646+211_646+326del
ENST00000637264.1:c.1021+171_1021+286del
ENST00000666746.1:c.1526+171_1526+286del
ENST00000670281.1:c.269+171_269+286del	ENSP00000499709.1:n.269+171_269+286del
ENST00000672071.1:n.2147+171_2147+286del
ENST00000672923.2:n.2052+171_2052+286del
ENST00000268124.9:c.1949+171_1949+286del	ENSP00000268124.5:n.1949+171_1949+286del
ENST00000442287.6:c.1949+171_1949+286del	ENSP00000399851.2:n.1949+171_1949+286del
ENST00000526314.2:c.331+171_331+286del
ENST00000526398.1:c.138+171_138+286del
ENST00000526573.1:n.35+171_35+286del
ENST00000532584.5:n.151+171_151+286del
ENST00000631044.2:c.*1332+171_*1332+286del	ENSP00000486730.1:n.*1332+171_*1332+286del
NM_001126131.1:c.1949+171_1949+286del	NP_001119603.1:n.1949+171_1949+286del
NM_002693.2:c.1949+171_1949+286del	NP_002684.1:n.1949+171_1949+286del
NM_001126131.2:c.1949+171_1949+286del	NP_001119603.1:n.1949+171_1949+286del
NM_002693.3:c.1949+171_1949+286del MANE Select	NP_002684.1:n.1949+171_1949+286del