Canonical Allele Identifier: CA2805167596

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317698_89317702del , CM000677.2:g.89317698_89317702del	GRCh38
NC_000015.9:g.89860929_89860933del , CM000677.1:g.89860929_89860933del	GRCh37
NC_000015.8:g.87661933_87661937del	NCBI36
NG_008218.1:g.22094_22098del
NG_011736.1:g.78736_78740del , LRG_500:g.78736_78740del
NG_008218.2:g.22094_22098del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-166_3483-162del	ENSP00000516154.1:n.3483-166_3483-162del
ENST00000268124.11:c.3483-166_3483-162del MANE Select	ENSP00000268124.5:n.3483-166_3483-162del
ENST00000530292.3:c.3183-166_3183-162del	ENSP00000432885.2:n.3183-166_3183-162del
ENST00000635986.2:c.*553-166_*553-162del	ENSP00000490653.2:n.*553-166_*553-162del
ENST00000636774.1:c.*2087-166_*2087-162del	ENSP00000489799.1:n.*2087-166_*2087-162del
ENST00000637042.1:n.72-231_72-227del
ENST00000637238.1:c.2391-166_2391-162del	ENSP00000490756.1:n.2391-166_2391-162del
ENST00000637264.1:c.2555-226_2555-222del
ENST00000666746.1:c.3060-166_3060-162del
ENST00000672071.1:n.4519_4523del
ENST00000672695.1:n.1262-166_1262-162del
ENST00000672923.2:n.3483-166_3483-162del
ENST00000268124.9:c.3483-166_3483-162del	ENSP00000268124.5:n.3483-166_3483-162del
ENST00000442287.6:c.3483-166_3483-162del	ENSP00000399851.2:n.3483-166_3483-162del
ENST00000526671.1:n.127_131del
ENST00000530292.2:c.666-166_666-162del	ENSP00000432885.1:n.666-166_666-162del
ENST00000631044.2:c.*2907-166_*2907-162del	ENSP00000486730.1:n.*2907-166_*2907-162del
NM_001126131.1:c.3483-166_3483-162del	NP_001119603.1:n.3483-166_3483-162del
NM_002693.2:c.3483-166_3483-162del	NP_002684.1:n.3483-166_3483-162del
NM_001126131.2:c.3483-166_3483-162del	NP_001119603.1:n.3483-166_3483-162del
NM_002693.3:c.3483-166_3483-162del MANE Select	NP_002684.1:n.3483-166_3483-162del