Canonical Allele Identifier: CA2194549235

Gene: POLG

Linked Data

• dbSNP Id: rs2055498559
• gnomAD v4: 15-89325299-G-GTGTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325299_89325300insTGTGT , CM000677.2:g.89325299_89325300insTGTGT	GRCh38
NC_000015.9:g.89868530_89868531insTGTGT , CM000677.1:g.89868530_89868531insTGTGT	GRCh37
NC_000015.8:g.87669534_87669535insTGTGT	NCBI36
NG_008218.1:g.14496_14497insACACA
NG_008218.2:g.14496_14497insACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+150_1949+151insACACA	ENSP00000516154.1:n.1949+150_1949+151insACACA
ENST00000268124.11:c.1949+150_1949+151insACACA MANE Select	ENSP00000268124.5:n.1949+150_1949+151insACACA
ENST00000530292.3:c.1550+150_1550+151insACACA	ENSP00000432885.2:n.1550+150_1550+151insACACA
ENST00000635986.2:c.1949+150_1949+151insACACA	ENSP00000490653.2:n.1949+150_1949+151insACACA
ENST00000636774.1:c.*516+150_*516+151insACACA	ENSP00000489799.1:n.*516+150_*516+151insACACA
ENST00000637238.1:c.646+190_646+191insACACA	ENSP00000490756.1:n.646+190_646+191insACACA
ENST00000637264.1:c.1021+150_1021+151insACACA
ENST00000666746.1:c.1526+150_1526+151insACACA
ENST00000670281.1:c.269+150_269+151insACACA	ENSP00000499709.1:n.269+150_269+151insACACA
ENST00000672071.1:n.2147+150_2147+151insACACA
ENST00000672923.2:n.2052+150_2052+151insACACA
ENST00000268124.9:c.1949+150_1949+151insACACA	ENSP00000268124.5:n.1949+150_1949+151insACACA
ENST00000442287.6:c.1949+150_1949+151insACACA	ENSP00000399851.2:n.1949+150_1949+151insACACA
ENST00000526314.2:c.331+150_331+151insACACA
ENST00000526398.1:c.138+150_138+151insACACA
ENST00000526573.1:n.35+150_35+151insACACA
ENST00000532584.5:n.151+150_151+151insACACA
ENST00000631044.2:c.*1332+150_*1332+151insACACA	ENSP00000486730.1:n.*1332+150_*1332+151insACACA
NM_001126131.1:c.1949+150_1949+151insACACA	NP_001119603.1:n.1949+150_1949+151insACACA
NM_002693.2:c.1949+150_1949+151insACACA	NP_002684.1:n.1949+150_1949+151insACACA
NM_001126131.2:c.1949+150_1949+151insACACA	NP_001119603.1:n.1949+150_1949+151insACACA
NM_002693.3:c.1949+150_1949+151insACACA MANE Select	NP_002684.1:n.1949+150_1949+151insACACA