Canonical Allele Identifier: CA2805167535

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317596_89317600del , CM000677.2:g.89317596_89317600del	GRCh38
NC_000015.9:g.89860827_89860831del , CM000677.1:g.89860827_89860831del	GRCh37
NC_000015.8:g.87661831_87661835del	NCBI36
NG_008218.1:g.22196_22200del
NG_011736.1:g.78634_78638del , LRG_500:g.78634_78638del
NG_008218.2:g.22196_22200del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-64_3483-60del	ENSP00000516154.1:n.3483-64_3483-60del
ENST00000268124.11:c.3483-64_3483-60del MANE Select	ENSP00000268124.5:n.3483-64_3483-60del
ENST00000530292.3:c.3183-64_3183-60del	ENSP00000432885.2:n.3183-64_3183-60del
ENST00000635986.2:c.*553-64_*553-60del	ENSP00000490653.2:n.*553-64_*553-60del
ENST00000636774.1:c.*2087-64_*2087-60del	ENSP00000489799.1:n.*2087-64_*2087-60del
ENST00000637042.1:n.72-129_72-125del
ENST00000637238.1:c.2391-64_2391-60del	ENSP00000490756.1:n.2391-64_2391-60del
ENST00000637264.1:c.2555-124_2555-120del
ENST00000666746.1:c.3060-64_3060-60del
ENST00000672071.1:n.4621_4625del
ENST00000672695.1:n.1262-64_1262-60del
ENST00000672923.2:n.3483-64_3483-60del
ENST00000268124.9:c.3483-64_3483-60del	ENSP00000268124.5:n.3483-64_3483-60del
ENST00000442287.6:c.3483-64_3483-60del	ENSP00000399851.2:n.3483-64_3483-60del
ENST00000526671.1:n.229_233del
ENST00000530292.2:c.666-64_666-60del	ENSP00000432885.1:n.666-64_666-60del
ENST00000631044.2:c.*2907-64_*2907-60del	ENSP00000486730.1:n.*2907-64_*2907-60del
NM_001126131.1:c.3483-64_3483-60del	NP_001119603.1:n.3483-64_3483-60del
NM_002693.2:c.3483-64_3483-60del	NP_002684.1:n.3483-64_3483-60del
NM_001126131.2:c.3483-64_3483-60del	NP_001119603.1:n.3483-64_3483-60del
NM_002693.3:c.3483-64_3483-60del MANE Select	NP_002684.1:n.3483-64_3483-60del