Canonical Allele Identifier: CA2630252775

Gene: POLG

Linked Data

• gnomAD v4: 15-89325722-G-GTA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325723_89325724dup , CM000677.2:g.89325723_89325724dup	GRCh38
NC_000015.9:g.89868954_89868955dup , CM000677.1:g.89868954_89868955dup	GRCh37
NC_000015.8:g.87669958_87669959dup	NCBI36
NG_008218.1:g.14072_14073dup
NG_008218.2:g.14072_14073dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1713-38_1713-37dup	ENSP00000516154.1:n.1713-38_1713-37dup
ENST00000268124.11:c.1713-38_1713-37dup MANE Select	ENSP00000268124.5:n.1713-38_1713-37dup
ENST00000530292.3:c.1314-38_1314-37dup	ENSP00000432885.2:n.1314-38_1314-37dup
ENST00000635986.2:c.1713-38_1713-37dup	ENSP00000490653.2:n.1713-38_1713-37dup
ENST00000636774.1:c.*280-38_*280-37dup	ENSP00000489799.1:n.*280-38_*280-37dup
ENST00000637238.1:c.450-38_450-37dup	ENSP00000490756.1:n.450-38_450-37dup
ENST00000637264.1:c.785-38_785-37dup
ENST00000666746.1:c.1290-38_1290-37dup
ENST00000670281.1:c.33-38_33-37dup	ENSP00000499709.1:n.33-38_33-37dup
ENST00000672071.1:n.1911-38_1911-37dup
ENST00000672923.2:n.1816-38_1816-37dup
ENST00000268124.9:c.1713-38_1713-37dup	ENSP00000268124.5:n.1713-38_1713-37dup
ENST00000442287.6:c.1713-38_1713-37dup	ENSP00000399851.2:n.1713-38_1713-37dup
ENST00000526314.2:c.95-38_95-37dup
ENST00000631044.2:c.*1096-38_*1096-37dup	ENSP00000486730.1:n.*1096-38_*1096-37dup
NM_001126131.1:c.1713-38_1713-37dup	NP_001119603.1:n.1713-38_1713-37dup
NM_002693.2:c.1713-38_1713-37dup	NP_002684.1:n.1713-38_1713-37dup
NM_001126131.2:c.1713-38_1713-37dup	NP_001119603.1:n.1713-38_1713-37dup
NM_002693.3:c.1713-38_1713-37dup MANE Select	NP_002684.1:n.1713-38_1713-37dup