Canonical Allele Identifier: CA3260265331

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319053_89319054delinsAT , CM000677.2:g.89319053_89319054delinsAT	GRCh38
NC_000015.9:g.89862284_89862285delinsAT , CM000677.1:g.89862284_89862285delinsAT	GRCh37
NC_000015.8:g.87663288_87663289delinsAT	NCBI36
NG_008218.1:g.20742_20743delinsAT
NG_011736.1:g.80091_80092delinsAT , LRG_500:g.80091_80092delinsAT
NG_008218.2:g.20742_20743delinsAT

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.3150_3151delinsAT MANE Select	NP_002684.1:p.Gly1051Trp
ENST00000268124.11:c.3150_3151delinsAT MANE Select	ENSP00000268124.5:p.Gly1051Trp
NM_001126131.1:c.3150_3151delinsAT	NP_001119603.1:p.Gly1051Trp
NM_001126131.2:c.3150_3151delinsAT	NP_001119603.1:p.Gly1051Trp
NM_002693.2:c.3150_3151delinsAT	NP_002684.1:p.Gly1051Trp
ENST00000268124.9:c.3150_3151delinsAT	ENSP00000268124.5:p.Gly1051Trp
ENST00000442287.6:c.3150_3151delinsAT	ENSP00000399851.2:p.Gly1051Trp
ENST00000530292.2:c.234_235delinsAT	ENSP00000432885.1:p.Gly79Trp
ENST00000530292.3:c.2751_2752delinsAT	ENSP00000432885.2:p.Gly918Trp
ENST00000631044.2:c.*2574_*2575delinsAT	ENSP00000486730.1:n.*2574_*2575delinsAT
ENST00000635986.2:c.*220_*221delinsAT	ENSP00000490653.2:n.*220_*221delinsAT
ENST00000636774.1:c.*1717_*1718delinsAT	ENSP00000489799.1:n.*1717_*1718delinsAT
ENST00000636937.2:c.3150_3151delinsAT	ENSP00000516154.1:p.Gly1051Trp
ENST00000637238.1:c.1959_1960delinsAT	ENSP00000490756.1:n.1959_1960delinsAT
ENST00000637264.1:c.2222_2223delinsAT
ENST00000666746.1:c.2727_2728delinsAT
ENST00000672071.1:n.3348_3349delinsAT
ENST00000672695.1:n.327_328delinsAT
ENST00000672923.2:n.3150_3151delinsAT