Canonical Allele Identifier: CA716886942

Gene: POLG

Linked Data

• dbSNP Id: rs1475239133
• MyVariant Identifiers: chr15:g.89866507_89866508del (hg19) ; chr15:g.89323276_89323277del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323279_89323280del , CM000677.2:g.89323279_89323280del	GRCh38
NC_000015.9:g.89866510_89866511del , CM000677.1:g.89866510_89866511del	GRCh37
NC_000015.8:g.87667514_87667515del	NCBI36
NG_008218.1:g.16519_16520del
NG_008218.2:g.16519_16520del

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2265+127_2265+128del	ENSP00000516154.1:n.2265+127_2265+128del
ENST00000268124.11:c.2265+127_2265+128del MANE Select	ENSP00000268124.5:n.2265+127_2265+128del
ENST00000530292.3:c.1866+127_1866+128del	ENSP00000432885.2:n.1866+127_1866+128del
ENST00000635986.2:c.2265+127_2265+128del	ENSP00000490653.2:n.2265+127_2265+128del
ENST00000636774.1:c.*832+127_*832+128del	ENSP00000489799.1:n.*832+127_*832+128del
ENST00000637238.1:c.962+127_962+128del	ENSP00000490756.1:n.962+127_962+128del
ENST00000637264.1:c.1337+127_1337+128del
ENST00000666746.1:c.1842+127_1842+128del
ENST00000670281.1:c.585+127_585+128del	ENSP00000499709.1:n.585+127_585+128del
ENST00000672071.1:n.2463+127_2463+128del
ENST00000672923.2:n.2368+127_2368+128del
ENST00000268124.9:c.2265+127_2265+128del	ENSP00000268124.5:n.2265+127_2265+128del
ENST00000442287.6:c.2265+127_2265+128del	ENSP00000399851.2:n.2265+127_2265+128del
ENST00000526314.2:c.540-375_540-374del
ENST00000526398.1:c.414+127_414+128del
ENST00000528881.2:c.34+127_34+128del
ENST00000530715.5:c.24+127_24+128del	ENSP00000431395.1:n.24+127_24+128del
ENST00000532584.5:n.467+127_467+128del
ENST00000631044.2:c.*1689+127_*1689+128del	ENSP00000486730.1:n.*1689+127_*1689+128de...
NM_001126131.1:c.2265+127_2265+128del	NP_001119603.1:n.2265+127_2265+128del
NM_002693.2:c.2265+127_2265+128del	NP_002684.1:n.2265+127_2265+128del
NM_001126131.2:c.2265+127_2265+128del	NP_001119603.1:n.2265+127_2265+128del
NM_002693.3:c.2265+127_2265+128del MANE Select	NP_002684.1:n.2265+127_2265+128del