Canonical Allele Identifier: CA716910000

Gene: POLG

Linked Data

• dbSNP Id: rs775276056
• gnomAD v4: 15-89325308-G-GTGTGTGTA
• MyVariant Identifiers: chr15:g.89868539_89868540insTGTGTGTA (hg19) ; chr15:g.89325308_89325309insTGTGTGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325315_89325316insATGTGTGT , CM000677.2:g.89325315_89325316insATGTGTGT	GRCh38
NC_000015.9:g.89868546_89868547insATGTGTGT , CM000677.1:g.89868546_89868547insATGTGTGT	GRCh37
NC_000015.8:g.87669550_87669551insATGTGTGT	NCBI36
NG_008218.1:g.14487_14488insTACACACA
NG_008218.2:g.14487_14488insTACACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+141_1949+142insTACACACA	ENSP00000516154.1:n.1949+141_1949+142insTACACACA
ENST00000268124.11:c.1949+141_1949+142insTACACACA MANE Select	ENSP00000268124.5:n.1949+141_1949+142insTACACACA
ENST00000530292.3:c.1550+141_1550+142insTACACACA	ENSP00000432885.2:n.1550+141_1550+142insTACACACA
ENST00000635986.2:c.1949+141_1949+142insTACACACA	ENSP00000490653.2:n.1949+141_1949+142insTACACACA
ENST00000636774.1:c.*516+141_*516+142insTACACACA	ENSP00000489799.1:n.*516+141_*516+142insTACACACA
ENST00000637238.1:c.646+181_646+182insTACACACA	ENSP00000490756.1:n.646+181_646+182insTACACACA
ENST00000637264.1:c.1021+141_1021+142insTACACACA
ENST00000666746.1:c.1526+141_1526+142insTACACACA
ENST00000670281.1:c.269+141_269+142insTACACACA	ENSP00000499709.1:n.269+141_269+142insTACACACA
ENST00000672071.1:n.2147+141_2147+142insTACACACA
ENST00000672923.2:n.2052+141_2052+142insTACACACA
ENST00000268124.9:c.1949+141_1949+142insTACACACA	ENSP00000268124.5:n.1949+141_1949+142insTACACACA
ENST00000442287.6:c.1949+141_1949+142insTACACACA	ENSP00000399851.2:n.1949+141_1949+142insTACACACA
ENST00000526314.2:c.331+141_331+142insTACACACA
ENST00000526398.1:c.138+141_138+142insTACACACA
ENST00000526573.1:n.35+141_35+142insTACACACA
ENST00000532584.5:n.151+141_151+142insTACACACA
ENST00000631044.2:c.*1332+141_*1332+142insTACACACA	ENSP00000486730.1:n.*1332+141_*1332+142insTACACACA
NM_001126131.1:c.1949+141_1949+142insTACACACA	NP_001119603.1:n.1949+141_1949+142insTACACACA
NM_002693.2:c.1949+141_1949+142insTACACACA	NP_002684.1:n.1949+141_1949+142insTACACACA
NM_001126131.2:c.1949+141_1949+142insTACACACA	NP_001119603.1:n.1949+141_1949+142insTACACACA
NM_002693.3:c.1949+141_1949+142insTACACACA MANE Select	NP_002684.1:n.1949+141_1949+142insTACACACA