Canonical Allele Identifier: CA2805167576

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317663_89317668del , CM000677.2:g.89317663_89317668del	GRCh38
NC_000015.9:g.89860894_89860899del , CM000677.1:g.89860894_89860899del	GRCh37
NC_000015.8:g.87661898_87661903del	NCBI36
NG_008218.1:g.22128_22133del
NG_011736.1:g.78701_78706del , LRG_500:g.78701_78706del
NG_008218.2:g.22128_22133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-132_3483-127del	ENSP00000516154.1:n.3483-132_3483-127del
ENST00000268124.11:c.3483-132_3483-127del MANE Select	ENSP00000268124.5:n.3483-132_3483-127del
ENST00000530292.3:c.3183-132_3183-127del	ENSP00000432885.2:n.3183-132_3183-127del
ENST00000635986.2:c.*553-132_*553-127del	ENSP00000490653.2:n.*553-132_*553-127del
ENST00000636774.1:c.*2087-132_*2087-127del	ENSP00000489799.1:n.*2087-132_*2087-127del
ENST00000637042.1:n.72-197_72-192del
ENST00000637238.1:c.2391-132_2391-127del	ENSP00000490756.1:n.2391-132_2391-127del
ENST00000637264.1:c.2555-192_2555-187del
ENST00000666746.1:c.3060-132_3060-127del
ENST00000672071.1:n.4553_4558del
ENST00000672695.1:n.1262-132_1262-127del
ENST00000672923.2:n.3483-132_3483-127del
ENST00000268124.9:c.3483-132_3483-127del	ENSP00000268124.5:n.3483-132_3483-127del
ENST00000442287.6:c.3483-132_3483-127del	ENSP00000399851.2:n.3483-132_3483-127del
ENST00000526671.1:n.161_166del
ENST00000530292.2:c.666-132_666-127del	ENSP00000432885.1:n.666-132_666-127del
ENST00000631044.2:c.*2907-132_*2907-127del	ENSP00000486730.1:n.*2907-132_*2907-127del
NM_001126131.1:c.3483-132_3483-127del	NP_001119603.1:n.3483-132_3483-127del
NM_002693.2:c.3483-132_3483-127del	NP_002684.1:n.3483-132_3483-127del
NM_001126131.2:c.3483-132_3483-127del	NP_001119603.1:n.3483-132_3483-127del
NM_002693.3:c.3483-132_3483-127del MANE Select	NP_002684.1:n.3483-132_3483-127del