Canonical Allele Identifier: CA2630251919

Gene: POLG

Linked Data

• gnomAD v4: 15-89325300-GTGTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325301_89325305del , CM000677.2:g.89325301_89325305del	GRCh38
NC_000015.9:g.89868532_89868536del , CM000677.1:g.89868532_89868536del	GRCh37
NC_000015.8:g.87669536_87669540del	NCBI36
NG_008218.1:g.14491_14495del
NG_008218.2:g.14491_14495del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+145_1949+149del	ENSP00000516154.1:n.1949+145_1949+149del
ENST00000268124.11:c.1949+145_1949+149del MANE Select	ENSP00000268124.5:n.1949+145_1949+149del
ENST00000530292.3:c.1550+145_1550+149del	ENSP00000432885.2:n.1550+145_1550+149del
ENST00000635986.2:c.1949+145_1949+149del	ENSP00000490653.2:n.1949+145_1949+149del
ENST00000636774.1:c.*516+145_*516+149del	ENSP00000489799.1:n.*516+145_*516+149del
ENST00000637238.1:c.646+185_646+189del	ENSP00000490756.1:n.646+185_646+189del
ENST00000637264.1:c.1021+145_1021+149del
ENST00000666746.1:c.1526+145_1526+149del
ENST00000670281.1:c.269+145_269+149del	ENSP00000499709.1:n.269+145_269+149del
ENST00000672071.1:n.2147+145_2147+149del
ENST00000672923.2:n.2052+145_2052+149del
ENST00000268124.9:c.1949+145_1949+149del	ENSP00000268124.5:n.1949+145_1949+149del
ENST00000442287.6:c.1949+145_1949+149del	ENSP00000399851.2:n.1949+145_1949+149del
ENST00000526314.2:c.331+145_331+149del
ENST00000526398.1:c.138+145_138+149del
ENST00000526573.1:n.35+145_35+149del
ENST00000532584.5:n.151+145_151+149del
ENST00000631044.2:c.*1332+145_*1332+149del	ENSP00000486730.1:n.*1332+145_*1332+149del
NM_001126131.1:c.1949+145_1949+149del	NP_001119603.1:n.1949+145_1949+149del
NM_002693.2:c.1949+145_1949+149del	NP_002684.1:n.1949+145_1949+149del
NM_001126131.2:c.1949+145_1949+149del	NP_001119603.1:n.1949+145_1949+149del
NM_002693.3:c.1949+145_1949+149del MANE Select	NP_002684.1:n.1949+145_1949+149del