Canonical Allele Identifier: CA619514169

Gene: POLG

Linked Data

• dbSNP Id: rs145083754
• gnomAD v2: 15-89868515-AAGAG-A
• gnomAD v3: 15-89325284-AAGAG-A
• gnomAD v4: 15-89325284-AAGAG-A
• MyVariant Identifiers: chr15:g.89868516_89868519del (hg19) ; chr15:g.89325285_89325288del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325295_89325298del , CM000677.2:g.89325295_89325298del	GRCh38
NC_000015.9:g.89868526_89868529del , CM000677.1:g.89868526_89868529del	GRCh37
NC_000015.8:g.87669530_87669533del	NCBI36
NG_008218.1:g.14508_14511del
NG_008218.2:g.14508_14511del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+162_1949+165del	ENSP00000516154.1:n.1949+162_1949+165del
ENST00000268124.11:c.1949+162_1949+165del MANE Select	ENSP00000268124.5:n.1949+162_1949+165del
ENST00000530292.3:c.1550+162_1550+165del	ENSP00000432885.2:n.1550+162_1550+165del
ENST00000635986.2:c.1949+162_1949+165del	ENSP00000490653.2:n.1949+162_1949+165del
ENST00000636774.1:c.*516+162_*516+165del	ENSP00000489799.1:n.*516+162_*516+165del
ENST00000637238.1:c.646+202_646+205del	ENSP00000490756.1:n.646+202_646+205del
ENST00000637264.1:c.1021+162_1021+165del
ENST00000666746.1:c.1526+162_1526+165del
ENST00000670281.1:c.269+162_269+165del	ENSP00000499709.1:n.269+162_269+165del
ENST00000672071.1:n.2147+162_2147+165del
ENST00000672923.2:n.2052+162_2052+165del
ENST00000268124.9:c.1949+162_1949+165del	ENSP00000268124.5:n.1949+162_1949+165del
ENST00000442287.6:c.1949+162_1949+165del	ENSP00000399851.2:n.1949+162_1949+165del
ENST00000526314.2:c.331+162_331+165del
ENST00000526398.1:c.138+162_138+165del
ENST00000526573.1:n.35+162_35+165del
ENST00000532584.5:n.151+162_151+165del
ENST00000631044.2:c.*1332+162_*1332+165del	ENSP00000486730.1:n.*1332+162_*1332+165del
NM_001126131.1:c.1949+162_1949+165del	NP_001119603.1:n.1949+162_1949+165del
NM_002693.2:c.1949+162_1949+165del	NP_002684.1:n.1949+162_1949+165del
NM_001126131.2:c.1949+162_1949+165del	NP_001119603.1:n.1949+162_1949+165del
NM_002693.3:c.1949+162_1949+165del MANE Select	NP_002684.1:n.1949+162_1949+165del