Canonical Allele Identifier: CA2575828656

Gene: POLG

Linked Data

• gnomAD v3: 15-89325366-ACT-A
• gnomAD v4: 15-89325366-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325369_89325370del , CM000677.2:g.89325369_89325370del	GRCh38
NC_000015.9:g.89868600_89868601del , CM000677.1:g.89868600_89868601del	GRCh37
NC_000015.8:g.87669604_87669605del	NCBI36
NG_008218.1:g.14428_14429del
NG_008218.2:g.14428_14429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+82_1949+83del	ENSP00000516154.1:n.1949+82_1949+83del
ENST00000268124.11:c.1949+82_1949+83del MANE Select	ENSP00000268124.5:n.1949+82_1949+83del
ENST00000530292.3:c.1550+82_1550+83del	ENSP00000432885.2:n.1550+82_1550+83del
ENST00000635986.2:c.1949+82_1949+83del	ENSP00000490653.2:n.1949+82_1949+83del
ENST00000636774.1:c.*516+82_*516+83del	ENSP00000489799.1:n.*516+82_*516+83del
ENST00000637238.1:c.646+122_646+123del	ENSP00000490756.1:n.646+122_646+123del
ENST00000637264.1:c.1021+82_1021+83del
ENST00000666746.1:c.1526+82_1526+83del
ENST00000670281.1:c.269+82_269+83del	ENSP00000499709.1:n.269+82_269+83del
ENST00000672071.1:n.2147+82_2147+83del
ENST00000672923.2:n.2052+82_2052+83del
ENST00000268124.9:c.1949+82_1949+83del	ENSP00000268124.5:n.1949+82_1949+83del
ENST00000442287.6:c.1949+82_1949+83del	ENSP00000399851.2:n.1949+82_1949+83del
ENST00000526314.2:c.331+82_331+83del
ENST00000526398.1:c.138+82_138+83del
ENST00000526573.1:n.35+82_35+83del
ENST00000532584.5:n.151+82_151+83del
ENST00000631044.2:c.*1332+82_*1332+83del	ENSP00000486730.1:n.*1332+82_*1332+83del
NM_001126131.1:c.1949+82_1949+83del	NP_001119603.1:n.1949+82_1949+83del
NM_002693.2:c.1949+82_1949+83del	NP_002684.1:n.1949+82_1949+83del
NM_001126131.2:c.1949+82_1949+83del	NP_001119603.1:n.1949+82_1949+83del
NM_002693.3:c.1949+82_1949+83del MANE Select	NP_002684.1:n.1949+82_1949+83del