Canonical Allele Identifier: CA274553754

Gene: POLG

Linked Data

• dbSNP Id: rs763399009
• gnomAD v2: 15-89868511-GAGAA-G
• gnomAD v3: 15-89325280-GAGAA-G
• gnomAD v4: 15-89325280-GAGAA-G
• MyVariant Identifiers: chr15:g.89868512_89868515del (hg19) ; chr15:g.89325281_89325284del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325284_89325287del , CM000677.2:g.89325284_89325287del	GRCh38
NC_000015.9:g.89868515_89868518del , CM000677.1:g.89868515_89868518del	GRCh37
NC_000015.8:g.87669519_87669522del	NCBI36
NG_008218.1:g.14512_14515del
NG_008218.2:g.14512_14515del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+166_1949+169del	ENSP00000516154.1:n.1949+166_1949+169del
ENST00000268124.11:c.1949+166_1949+169del MANE Select	ENSP00000268124.5:n.1949+166_1949+169del
ENST00000530292.3:c.1550+166_1550+169del	ENSP00000432885.2:n.1550+166_1550+169del
ENST00000635986.2:c.1949+166_1949+169del	ENSP00000490653.2:n.1949+166_1949+169del
ENST00000636774.1:c.*516+166_*516+169del	ENSP00000489799.1:n.*516+166_*516+169del
ENST00000637238.1:c.646+206_646+209del	ENSP00000490756.1:n.646+206_646+209del
ENST00000637264.1:c.1021+166_1021+169del
ENST00000666746.1:c.1526+166_1526+169del
ENST00000670281.1:c.269+166_269+169del	ENSP00000499709.1:n.269+166_269+169del
ENST00000672071.1:n.2147+166_2147+169del
ENST00000672923.2:n.2052+166_2052+169del
ENST00000268124.9:c.1949+166_1949+169del	ENSP00000268124.5:n.1949+166_1949+169del
ENST00000442287.6:c.1949+166_1949+169del	ENSP00000399851.2:n.1949+166_1949+169del
ENST00000526314.2:c.331+166_331+169del
ENST00000526398.1:c.138+166_138+169del
ENST00000526573.1:n.35+166_35+169del
ENST00000532584.5:n.151+166_151+169del
ENST00000631044.2:c.*1332+166_*1332+169del	ENSP00000486730.1:n.*1332+166_*1332+169del
NM_001126131.1:c.1949+166_1949+169del	NP_001119603.1:n.1949+166_1949+169del
NM_002693.2:c.1949+166_1949+169del	NP_002684.1:n.1949+166_1949+169del
NM_001126131.2:c.1949+166_1949+169del	NP_001119603.1:n.1949+166_1949+169del
NM_002693.3:c.1949+166_1949+169del MANE Select	NP_002684.1:n.1949+166_1949+169del