Canonical Allele Identifier: CA716886892

Gene: POLG

Linked Data

• dbSNP Id: rs1468188925
• MyVariant Identifiers: chr15:g.89866417_89866437del (hg19) ; chr15:g.89323186_89323206del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323191_89323211del , CM000677.2:g.89323191_89323211del	GRCh38
NC_000015.9:g.89866422_89866442del , CM000677.1:g.89866422_89866442del	GRCh37
NC_000015.8:g.87667426_87667446del	NCBI36
NG_008218.1:g.16590_16610del
NG_008218.2:g.16590_16610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2265+198_2265+218del	ENSP00000516154.1:n.2265+198_2265+218del
ENST00000268124.11:c.2265+198_2265+218del MANE Select	ENSP00000268124.5:n.2265+198_2265+218del
ENST00000530292.3:c.1866+198_1866+218del	ENSP00000432885.2:n.1866+198_1866+218del
ENST00000635986.2:c.2265+198_2265+218del	ENSP00000490653.2:n.2265+198_2265+218del
ENST00000636774.1:c.*832+198_*832+218del	ENSP00000489799.1:n.*832+198_*832+218del
ENST00000637238.1:c.962+198_962+218del	ENSP00000490756.1:n.962+198_962+218del
ENST00000637264.1:c.1337+198_1337+218del
ENST00000666746.1:c.1842+198_1842+218del
ENST00000670281.1:c.585+198_585+218del	ENSP00000499709.1:n.585+198_585+218del
ENST00000672071.1:n.2463+198_2463+218del
ENST00000672923.2:n.2368+198_2368+218del
ENST00000268124.9:c.2265+198_2265+218del	ENSP00000268124.5:n.2265+198_2265+218del
ENST00000442287.6:c.2265+198_2265+218del	ENSP00000399851.2:n.2265+198_2265+218del
ENST00000526314.2:c.540-304_540-284del
ENST00000526398.1:c.414+198_414+218del
ENST00000528881.2:c.34+198_34+218del
ENST00000530715.5:c.24+198_24+218del	ENSP00000431395.1:n.24+198_24+218del
ENST00000532584.5:n.467+198_467+218del
ENST00000631044.2:c.*1689+198_*1689+218del	ENSP00000486730.1:n.*1689+198_*1689+218del
NM_001126131.1:c.2265+198_2265+218del	NP_001119603.1:n.2265+198_2265+218del
NM_002693.2:c.2265+198_2265+218del	NP_002684.1:n.2265+198_2265+218del
NM_001126131.2:c.2265+198_2265+218del	NP_001119603.1:n.2265+198_2265+218del
NM_002693.3:c.2265+198_2265+218del MANE Select	NP_002684.1:n.2265+198_2265+218del