Canonical Allele Identifier: CA274554044

Gene: POLG

Linked Data

• dbSNP Id: rs544314901
• gnomAD v3: 15-89325334-C-CT
• gnomAD v4: 15-89325334-C-CT
• MyVariant Identifiers: chr15:g.89868565_89868566insT (hg19) ; chr15:g.89325334_89325335insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325334_89325335insT , CM000677.2:g.89325334_89325335insT	GRCh38
NC_000015.9:g.89868565_89868566insT , CM000677.1:g.89868565_89868566insT	GRCh37
NC_000015.8:g.87669569_87669570insT	NCBI36
NG_008218.1:g.14461_14462insA
NG_008218.2:g.14461_14462insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+115_1949+116insA	ENSP00000516154.1:n.1949+115_1949+116insA
ENST00000268124.11:c.1949+115_1949+116insA MANE Select	ENSP00000268124.5:n.1949+115_1949+116insA
ENST00000530292.3:c.1550+115_1550+116insA	ENSP00000432885.2:n.1550+115_1550+116insA
ENST00000635986.2:c.1949+115_1949+116insA	ENSP00000490653.2:n.1949+115_1949+116insA
ENST00000636774.1:c.*516+115_*516+116insA	ENSP00000489799.1:n.*516+115_*516+116insA
ENST00000637238.1:c.646+155_646+156insA	ENSP00000490756.1:n.646+155_646+156insA
ENST00000637264.1:c.1021+115_1021+116insA
ENST00000666746.1:c.1526+115_1526+116insA
ENST00000670281.1:c.269+115_269+116insA	ENSP00000499709.1:n.269+115_269+116insA
ENST00000672071.1:n.2147+115_2147+116insA
ENST00000672923.2:n.2052+115_2052+116insA
ENST00000268124.9:c.1949+115_1949+116insA	ENSP00000268124.5:n.1949+115_1949+116insA
ENST00000442287.6:c.1949+115_1949+116insA	ENSP00000399851.2:n.1949+115_1949+116insA
ENST00000526314.2:c.331+115_331+116insA
ENST00000526398.1:c.138+115_138+116insA
ENST00000526573.1:n.35+115_35+116insA
ENST00000532584.5:n.151+115_151+116insA
ENST00000631044.2:c.*1332+115_*1332+116insA	ENSP00000486730.1:n.*1332+115_*1332+116insA
NM_001126131.1:c.1949+115_1949+116insA	NP_001119603.1:n.1949+115_1949+116insA
NM_002693.2:c.1949+115_1949+116insA	NP_002684.1:n.1949+115_1949+116insA
NM_001126131.2:c.1949+115_1949+116insA	NP_001119603.1:n.1949+115_1949+116insA
NM_002693.3:c.1949+115_1949+116insA MANE Select	NP_002684.1:n.1949+115_1949+116insA