Canonical Allele Identifier: CA2630255356

Gene: POLG

Linked Data

• gnomAD v4: 15-89323263-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323266_89323267del , CM000677.2:g.89323266_89323267del	GRCh38
NC_000015.9:g.89866497_89866498del , CM000677.1:g.89866497_89866498del	GRCh37
NC_000015.8:g.87667501_87667502del	NCBI36
NG_008218.1:g.16531_16532del
NG_008218.2:g.16531_16532del

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2265+139_2265+140del	ENSP00000516154.1:n.2265+139_2265+140del
ENST00000268124.11:c.2265+139_2265+140del MANE Select	ENSP00000268124.5:n.2265+139_2265+140del
ENST00000530292.3:c.1866+139_1866+140del	ENSP00000432885.2:n.1866+139_1866+140del
ENST00000635986.2:c.2265+139_2265+140del	ENSP00000490653.2:n.2265+139_2265+140del
ENST00000636774.1:c.*832+139_*832+140del	ENSP00000489799.1:n.*832+139_*832+140del
ENST00000637238.1:c.962+139_962+140del	ENSP00000490756.1:n.962+139_962+140del
ENST00000637264.1:c.1337+139_1337+140del
ENST00000666746.1:c.1842+139_1842+140del
ENST00000670281.1:c.585+139_585+140del	ENSP00000499709.1:n.585+139_585+140del
ENST00000672071.1:n.2463+139_2463+140del
ENST00000672923.2:n.2368+139_2368+140del
ENST00000268124.9:c.2265+139_2265+140del	ENSP00000268124.5:n.2265+139_2265+140del
ENST00000442287.6:c.2265+139_2265+140del	ENSP00000399851.2:n.2265+139_2265+140del
ENST00000526314.2:c.540-363_540-362del
ENST00000526398.1:c.414+139_414+140del
ENST00000528881.2:c.34+139_34+140del
ENST00000530715.5:c.24+139_24+140del	ENSP00000431395.1:n.24+139_24+140del
ENST00000532584.5:n.467+139_467+140del
ENST00000631044.2:c.*1689+139_*1689+140del	ENSP00000486730.1:n.*1689+139_*1689+140de...
NM_001126131.1:c.2265+139_2265+140del	NP_001119603.1:n.2265+139_2265+140del
NM_002693.2:c.2265+139_2265+140del	NP_002684.1:n.2265+139_2265+140del
NM_001126131.2:c.2265+139_2265+140del	NP_001119603.1:n.2265+139_2265+140del
NM_002693.3:c.2265+139_2265+140del MANE Select	NP_002684.1:n.2265+139_2265+140del