Canonical Allele Identifier: CA2630252044

Gene: POLG

Linked Data

• gnomAD v4: 15-89325355-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325356_89325357del , CM000677.2:g.89325356_89325357del	GRCh38
NC_000015.9:g.89868587_89868588del , CM000677.1:g.89868587_89868588del	GRCh37
NC_000015.8:g.87669591_87669592del	NCBI36
NG_008218.1:g.14439_14440del
NG_008218.2:g.14439_14440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+93_1949+94del	ENSP00000516154.1:n.1949+93_1949+94del
ENST00000268124.11:c.1949+93_1949+94del MANE Select	ENSP00000268124.5:n.1949+93_1949+94del
ENST00000530292.3:c.1550+93_1550+94del	ENSP00000432885.2:n.1550+93_1550+94del
ENST00000635986.2:c.1949+93_1949+94del	ENSP00000490653.2:n.1949+93_1949+94del
ENST00000636774.1:c.*516+93_*516+94del	ENSP00000489799.1:n.*516+93_*516+94del
ENST00000637238.1:c.646+133_646+134del	ENSP00000490756.1:n.646+133_646+134del
ENST00000637264.1:c.1021+93_1021+94del
ENST00000666746.1:c.1526+93_1526+94del
ENST00000670281.1:c.269+93_269+94del	ENSP00000499709.1:n.269+93_269+94del
ENST00000672071.1:n.2147+93_2147+94del
ENST00000672923.2:n.2052+93_2052+94del
ENST00000268124.9:c.1949+93_1949+94del	ENSP00000268124.5:n.1949+93_1949+94del
ENST00000442287.6:c.1949+93_1949+94del	ENSP00000399851.2:n.1949+93_1949+94del
ENST00000526314.2:c.331+93_331+94del
ENST00000526398.1:c.138+93_138+94del
ENST00000526573.1:n.35+93_35+94del
ENST00000532584.5:n.151+93_151+94del
ENST00000631044.2:c.*1332+93_*1332+94del	ENSP00000486730.1:n.*1332+93_*1332+94del
NM_001126131.1:c.1949+93_1949+94del	NP_001119603.1:n.1949+93_1949+94del
NM_002693.2:c.1949+93_1949+94del	NP_002684.1:n.1949+93_1949+94del
NM_001126131.2:c.1949+93_1949+94del	NP_001119603.1:n.1949+93_1949+94del
NM_002693.3:c.1949+93_1949+94del MANE Select	NP_002684.1:n.1949+93_1949+94del