Canonical Allele Identifier: CA2194548015

Gene: POLG

Linked Data

• dbSNP Id: rs2055385860

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320931_89320932insG , CM000677.2:g.89320931_89320932insG	GRCh38
NC_000015.9:g.89864162_89864163insG , CM000677.1:g.89864162_89864163insG	GRCh37
NC_000015.8:g.87665166_87665167insG	NCBI36
NG_008218.1:g.18864_18865insC
NG_008218.2:g.18864_18865insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2815_2816insC	ENSP00000516154.1:p.Val939AlafsTer6
ENST00000268124.11:c.2815_2816insC MANE Select	ENSP00000268124.5:p.Val939AlafsTer6
ENST00000530292.3:c.2416_2417insC	ENSP00000432885.2:p.Val806AlafsTer6
ENST00000635986.2:c.2815_2816insC	ENSP00000490653.2:p.Val939AlafsTer6
ENST00000636774.1:c.*1382_*1383insC	ENSP00000489799.1:n.*1382_*1383insC
ENST00000637238.1:c.1624_1625insC	ENSP00000490756.1:n.1624_1625insC
ENST00000637264.1:c.1887_1888insC
ENST00000666746.1:c.2392_2393insC
ENST00000670281.1:c.800+1030_800+1031insC	ENSP00000499709.1:n.800+1030_800+1031insC
ENST00000672071.1:n.3013_3014insC
ENST00000672923.2:n.2757_2758insC
ENST00000268124.9:c.2815_2816insC	ENSP00000268124.5:p.Val939AlafsTer6
ENST00000442287.6:c.2815_2816insC	ENSP00000399851.2:p.Val939AlafsTer6
ENST00000528881.2:c.412_413insC
ENST00000530715.5:c.186-63_186-62insC	ENSP00000431395.1:n.186-63_186-62insC
ENST00000631044.2:c.*2239_*2240insC	ENSP00000486730.1:n.*2239_*2240insC
NM_001126131.1:c.2815_2816insC	NP_001119603.1:p.Val939AlafsTer6
NM_002693.2:c.2815_2816insC	NP_002684.1:p.Val939AlafsTer6
NM_001126131.2:c.2815_2816insC	NP_001119603.1:p.Val939AlafsTer6
NM_002693.3:c.2815_2816insC MANE Select	NP_002684.1:p.Val939AlafsTer6