Canonical Allele Identifier: CA2563739935

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325137_89325312del , CM000677.2:g.89325137_89325312del	GRCh38
NC_000015.9:g.89868368_89868543del , CM000677.1:g.89868368_89868543del	GRCh37
NC_000015.8:g.87669372_87669547del	NCBI36
NG_008218.1:g.14487_14662del
NG_008218.2:g.14487_14662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+141_1949+316del	ENSP00000516154.1:n.1949+141_1949+316del
ENST00000268124.11:c.1949+141_1949+316del MANE Select	ENSP00000268124.5:n.1949+141_1949+316del
ENST00000530292.3:c.1550+141_1550+316del	ENSP00000432885.2:n.1550+141_1550+316del
ENST00000635986.2:c.1949+141_1949+316del	ENSP00000490653.2:n.1949+141_1949+316del
ENST00000636774.1:c.*516+141_*516+316del	ENSP00000489799.1:n.*516+141_*516+316del
ENST00000637238.1:c.646+181_646+356del	ENSP00000490756.1:n.646+181_646+356del
ENST00000637264.1:c.1021+141_1021+316del
ENST00000666746.1:c.1526+141_1526+316del
ENST00000670281.1:c.269+141_269+316del	ENSP00000499709.1:n.269+141_269+316del
ENST00000672071.1:n.2147+141_2147+316del
ENST00000672923.2:n.2052+141_2052+316del
ENST00000268124.9:c.1949+141_1949+316del	ENSP00000268124.5:n.1949+141_1949+316del
ENST00000442287.6:c.1949+141_1949+316del	ENSP00000399851.2:n.1949+141_1949+316del
ENST00000526314.2:c.331+141_331+316del
ENST00000526398.1:c.138+141_138+316del
ENST00000526573.1:n.35+141_35+316del
ENST00000532584.5:n.151+141_151+316del
ENST00000631044.2:c.*1332+141_*1332+316del	ENSP00000486730.1:n.*1332+141_*1332+316del
NM_001126131.1:c.1949+141_1949+316del	NP_001119603.1:n.1949+141_1949+316del
NM_002693.2:c.1949+141_1949+316del	NP_002684.1:n.1949+141_1949+316del
NM_001126131.2:c.1949+141_1949+316del	NP_001119603.1:n.1949+141_1949+316del
NM_002693.3:c.1949+141_1949+316del MANE Select	NP_002684.1:n.1949+141_1949+316del