Canonical Allele Identifier: CA619514177

Gene: POLG

Linked Data

• dbSNP Id: rs1232400206
• gnomAD v2: 15-89868517-G-GAA
• gnomAD v3: 15-89325286-G-GAA
• gnomAD v4: 15-89325286-G-GAA
• MyVariant Identifiers: chr15:g.89868519_89868520delinsAAGA (hg19) ; chr15:g.89868517_89868518insAA (hg19) ; chr15:g.89325288_89325289delinsAAGA (hg38) ; chr15:g.89325286_89325287insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325287_89325288insAA , CM000677.2:g.89325287_89325288insAA	GRCh38
NC_000015.9:g.89868518_89868519insAA , CM000677.1:g.89868518_89868519insAA	GRCh37
NC_000015.8:g.87669522_87669523insAA	NCBI36
NG_008218.1:g.14509_14510insTT
NG_008218.2:g.14509_14510insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+163_1949+164insTT	ENSP00000516154.1:n.1949+163_1949+164insTT
ENST00000268124.11:c.1949+163_1949+164insTT MANE Select	ENSP00000268124.5:n.1949+163_1949+164insTT
ENST00000530292.3:c.1550+163_1550+164insTT	ENSP00000432885.2:n.1550+163_1550+164insTT
ENST00000635986.2:c.1949+163_1949+164insTT	ENSP00000490653.2:n.1949+163_1949+164insTT
ENST00000636774.1:c.*516+163_*516+164insTT	ENSP00000489799.1:n.*516+163_*516+164insTT
ENST00000637238.1:c.646+203_646+204insTT	ENSP00000490756.1:n.646+203_646+204insTT
ENST00000637264.1:c.1021+163_1021+164insTT
ENST00000666746.1:c.1526+163_1526+164insTT
ENST00000670281.1:c.269+163_269+164insTT	ENSP00000499709.1:n.269+163_269+164insTT
ENST00000672071.1:n.2147+163_2147+164insTT
ENST00000672923.2:n.2052+163_2052+164insTT
ENST00000268124.9:c.1949+163_1949+164insTT	ENSP00000268124.5:n.1949+163_1949+164insTT
ENST00000442287.6:c.1949+163_1949+164insTT	ENSP00000399851.2:n.1949+163_1949+164insTT
ENST00000526314.2:c.331+163_331+164insTT
ENST00000526398.1:c.138+163_138+164insTT
ENST00000526573.1:n.35+163_35+164insTT
ENST00000532584.5:n.151+163_151+164insTT
ENST00000631044.2:c.*1332+163_*1332+164insTT	ENSP00000486730.1:n.*1332+163_*1332+164insTT
NM_001126131.1:c.1949+163_1949+164insTT	NP_001119603.1:n.1949+163_1949+164insTT
NM_002693.2:c.1949+163_1949+164insTT	NP_002684.1:n.1949+163_1949+164insTT
NM_001126131.2:c.1949+163_1949+164insTT	NP_001119603.1:n.1949+163_1949+164insTT
NM_002693.3:c.1949+163_1949+164insTT MANE Select	NP_002684.1:n.1949+163_1949+164insTT