Canonical Allele Identifier: CA2695197353

Gene: POLG

Linked Data

• ClinVar Variation Id: 2677960
• ClinVar RCV Id: RCV003463340

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325458del , CM000677.2:g.89325458del	GRCh38
NC_000015.9:g.89868689del , CM000677.1:g.89868689del	GRCh37
NC_000015.8:g.87669693del	NCBI36
NG_008218.1:g.14341del
NG_008218.2:g.14341del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1944del	ENSP00000516154.1:p.Tyr649ThrfsTer20
ENST00000268124.11:c.1944del MANE Select	ENSP00000268124.5:p.Tyr649ThrfsTer20
ENST00000530292.3:c.1545del	ENSP00000432885.2:p.Tyr516ThrfsTer20
ENST00000635986.2:c.1944del	ENSP00000490653.2:p.Tyr649ThrfsTer20
ENST00000636774.1:c.*511del	ENSP00000489799.1:n.*511del
ENST00000637238.1:c.646+35del	ENSP00000490756.1:n.646+35del
ENST00000637264.1:c.1016del
ENST00000666746.1:c.1521del
ENST00000670281.1:c.264del	ENSP00000499709.1:p.Tyr89ThrfsTer20
ENST00000672071.1:n.2142del
ENST00000672923.2:n.2047del
ENST00000268124.9:c.1944del	ENSP00000268124.5:p.Tyr649ThrfsTer20
ENST00000442287.6:c.1944del	ENSP00000399851.2:p.Tyr649ThrfsTer20
ENST00000526314.2:c.326del
ENST00000526398.1:c.133del
ENST00000526573.1:n.30del
ENST00000532584.5:n.146del
ENST00000631044.2:c.*1327del	ENSP00000486730.1:n.*1327del
NM_001126131.1:c.1944del	NP_001119603.1:p.Tyr649ThrfsTer20
NM_002693.2:c.1944del	NP_002684.1:p.Tyr649ThrfsTer20
NM_001126131.2:c.1944del	NP_001119603.1:p.Tyr649ThrfsTer20
NM_002693.3:c.1944del MANE Select	NP_002684.1:p.Tyr649ThrfsTer20