Canonical Allele Identifier: CA7724653

Gene: POLG

Linked Data

• dbSNP Id: rs765521610
• ExAC: 15:89868649 C / CAGCCCCTTCCTCCCCTGGGCCT
• gnomAD v2: 15-89868649-C-CAGCCCCTTCCTCCCCTGGGCCT
• gnomAD v4: 15-89325418-C-CAGCCCCTTCCTCCCCTGGGCCT
• MyVariant Identifiers: chr15:g.89868649_89868650insAGCCCCTTCCTCCCCTGGGCCT (hg19) ; chr15:g.89325418_89325419insAGCCCCTTCCTCCCCTGGGCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325420_89325441dup , CM000677.2:g.89325420_89325441dup	GRCh38
NC_000015.9:g.89868651_89868672dup , CM000677.1:g.89868651_89868672dup	GRCh37
NC_000015.8:g.87669655_87669676dup	NCBI36
NG_008218.1:g.14356_14377dup
NG_008218.2:g.14356_14377dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+10_1949+31dup	ENSP00000516154.1:n.1949+10_1949+31dup
ENST00000268124.11:c.1949+10_1949+31dup MANE Select	ENSP00000268124.5:n.1949+10_1949+31dup
ENST00000530292.3:c.1550+10_1550+31dup	ENSP00000432885.2:n.1550+10_1550+31dup
ENST00000635986.2:c.1949+10_1949+31dup	ENSP00000490653.2:n.1949+10_1949+31dup
ENST00000636774.1:c.*516+10_*516+31dup	ENSP00000489799.1:n.*516+10_*516+31dup
ENST00000637238.1:c.646+50_646+71dup	ENSP00000490756.1:n.646+50_646+71dup
ENST00000637264.1:c.1021+10_1021+31dup
ENST00000666746.1:c.1526+10_1526+31dup
ENST00000670281.1:c.269+10_269+31dup	ENSP00000499709.1:n.269+10_269+31dup
ENST00000672071.1:n.2147+10_2147+31dup
ENST00000672923.2:n.2052+10_2052+31dup
ENST00000268124.9:c.1949+10_1949+31dup	ENSP00000268124.5:n.1949+10_1949+31dup
ENST00000442287.6:c.1949+10_1949+31dup	ENSP00000399851.2:n.1949+10_1949+31dup
ENST00000526314.2:c.331+10_331+31dup
ENST00000526398.1:c.138+10_138+31dup
ENST00000526573.1:n.35+10_35+31dup
ENST00000532584.5:n.151+10_151+31dup
ENST00000631044.2:c.*1332+10_*1332+31dup	ENSP00000486730.1:n.*1332+10_*1332+31dup
NM_001126131.1:c.1949+10_1949+31dup	NP_001119603.1:n.1949+10_1949+31dup
NM_002693.2:c.1949+10_1949+31dup	NP_002684.1:n.1949+10_1949+31dup
NM_001126131.2:c.1949+10_1949+31dup	NP_001119603.1:n.1949+10_1949+31dup
NM_002693.3:c.1949+10_1949+31dup MANE Select	NP_002684.1:n.1949+10_1949+31dup