Canonical Allele Identifier: CA2999040769

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320995_89320997del , CM000677.2:g.89320995_89320997del	GRCh38
NC_000015.9:g.89864226_89864228del , CM000677.1:g.89864226_89864228del	GRCh37
NC_000015.8:g.87665230_87665232del	NCBI36
NG_008218.1:g.18801_18803del
NG_008218.2:g.18801_18803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2752_2754del	ENSP00000516154.1:p.Trp918del
ENST00000268124.11:c.2752_2754del MANE Select	ENSP00000268124.5:p.Trp918del
ENST00000530292.3:c.2353_2355del	ENSP00000432885.2:p.Trp785del
ENST00000635986.2:c.2752_2754del	ENSP00000490653.2:p.Trp918del
ENST00000636774.1:c.*1319_*1321del	ENSP00000489799.1:n.*1319_*1321del
ENST00000637238.1:c.1561_1563del	ENSP00000490756.1:n.1561_1563del
ENST00000637264.1:c.1824_1826del
ENST00000666746.1:c.2329_2331del
ENST00000670281.1:c.800+967_800+969del	ENSP00000499709.1:n.800+967_800+969del
ENST00000672071.1:n.2950_2952del
ENST00000672923.2:n.2694_2696del
ENST00000268124.9:c.2752_2754del	ENSP00000268124.5:p.Trp918del
ENST00000442287.6:c.2752_2754del	ENSP00000399851.2:p.Trp918del
ENST00000528881.2:c.349_351del
ENST00000530715.5:c.186-126_186-124del	ENSP00000431395.1:n.186-126_186-124del
ENST00000631044.2:c.*2176_*2178del	ENSP00000486730.1:n.*2176_*2178del
NM_001126131.1:c.2752_2754del	NP_001119603.1:p.Trp918del
NM_002693.2:c.2752_2754del	NP_002684.1:p.Trp918del
NM_001126131.2:c.2752_2754del	NP_001119603.1:p.Trp918del
NM_002693.3:c.2752_2754del MANE Select	NP_002684.1:p.Trp918del