Canonical Allele Identifier: CA2630252030

Gene: POLG

Linked Data

• gnomAD v4: 15-89325342-CTGAACCCAGACTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325351_89325364del , CM000677.2:g.89325351_89325364del	GRCh38
NC_000015.9:g.89868582_89868595del , CM000677.1:g.89868582_89868595del	GRCh37
NC_000015.8:g.87669586_87669599del	NCBI36
NG_008218.1:g.14440_14453del
NG_008218.2:g.14440_14453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+94_1949+107del	ENSP00000516154.1:n.1949+94_1949+107del
ENST00000268124.11:c.1949+94_1949+107del MANE Select	ENSP00000268124.5:n.1949+94_1949+107del
ENST00000530292.3:c.1550+94_1550+107del	ENSP00000432885.2:n.1550+94_1550+107del
ENST00000635986.2:c.1949+94_1949+107del	ENSP00000490653.2:n.1949+94_1949+107del
ENST00000636774.1:c.*516+94_*516+107del	ENSP00000489799.1:n.*516+94_*516+107del
ENST00000637238.1:c.646+134_646+147del	ENSP00000490756.1:n.646+134_646+147del
ENST00000637264.1:c.1021+94_1021+107del
ENST00000666746.1:c.1526+94_1526+107del
ENST00000670281.1:c.269+94_269+107del	ENSP00000499709.1:n.269+94_269+107del
ENST00000672071.1:n.2147+94_2147+107del
ENST00000672923.2:n.2052+94_2052+107del
ENST00000268124.9:c.1949+94_1949+107del	ENSP00000268124.5:n.1949+94_1949+107del
ENST00000442287.6:c.1949+94_1949+107del	ENSP00000399851.2:n.1949+94_1949+107del
ENST00000526314.2:c.331+94_331+107del
ENST00000526398.1:c.138+94_138+107del
ENST00000526573.1:n.35+94_35+107del
ENST00000532584.5:n.151+94_151+107del
ENST00000631044.2:c.*1332+94_*1332+107del	ENSP00000486730.1:n.*1332+94_*1332+107del
NM_001126131.1:c.1949+94_1949+107del	NP_001119603.1:n.1949+94_1949+107del
NM_002693.2:c.1949+94_1949+107del	NP_002684.1:n.1949+94_1949+107del
NM_001126131.2:c.1949+94_1949+107del	NP_001119603.1:n.1949+94_1949+107del
NM_002693.3:c.1949+94_1949+107del MANE Select	NP_002684.1:n.1949+94_1949+107del