Canonical Allele Identifier: CA2630252834

Gene: POLG

Linked Data

• gnomAD v4: 15-89325765-CCCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325773_89325776del , CM000677.2:g.89325773_89325776del	GRCh38
NC_000015.9:g.89869004_89869007del , CM000677.1:g.89869004_89869007del	GRCh37
NC_000015.8:g.87670008_87670011del	NCBI36
NG_008218.1:g.14027_14030del
NG_008218.2:g.14027_14030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1713-83_1713-80del	ENSP00000516154.1:n.1713-83_1713-80del
ENST00000268124.11:c.1713-83_1713-80del MANE Select	ENSP00000268124.5:n.1713-83_1713-80del
ENST00000530292.3:c.1314-83_1314-80del	ENSP00000432885.2:n.1314-83_1314-80del
ENST00000635986.2:c.1713-83_1713-80del	ENSP00000490653.2:n.1713-83_1713-80del
ENST00000636774.1:c.*280-83_*280-80del	ENSP00000489799.1:n.*280-83_*280-80del
ENST00000637238.1:c.450-83_450-80del	ENSP00000490756.1:n.450-83_450-80del
ENST00000637264.1:c.785-83_785-80del
ENST00000666746.1:c.1290-83_1290-80del
ENST00000670281.1:c.33-83_33-80del	ENSP00000499709.1:n.33-83_33-80del
ENST00000672071.1:n.1911-83_1911-80del
ENST00000672923.2:n.1816-83_1816-80del
ENST00000268124.9:c.1713-83_1713-80del	ENSP00000268124.5:n.1713-83_1713-80del
ENST00000442287.6:c.1713-83_1713-80del	ENSP00000399851.2:n.1713-83_1713-80del
ENST00000526314.2:c.95-83_95-80del
ENST00000631044.2:c.*1096-83_*1096-80del	ENSP00000486730.1:n.*1096-83_*1096-80del
NM_001126131.1:c.1713-83_1713-80del	NP_001119603.1:n.1713-83_1713-80del
NM_002693.2:c.1713-83_1713-80del	NP_002684.1:n.1713-83_1713-80del
NM_001126131.2:c.1713-83_1713-80del	NP_001119603.1:n.1713-83_1713-80del
NM_002693.3:c.1713-83_1713-80del MANE Select	NP_002684.1:n.1713-83_1713-80del