Canonical Allele Identifier: CA2805167586

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317681_89317683del , CM000677.2:g.89317681_89317683del	GRCh38
NC_000015.9:g.89860912_89860914del , CM000677.1:g.89860912_89860914del	GRCh37
NC_000015.8:g.87661916_87661918del	NCBI36
NG_008218.1:g.22113_22115del
NG_011736.1:g.78719_78721del , LRG_500:g.78719_78721del
NG_008218.2:g.22113_22115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-147_3483-145del	ENSP00000516154.1:n.3483-147_3483-145del
ENST00000268124.11:c.3483-147_3483-145del MANE Select	ENSP00000268124.5:n.3483-147_3483-145del
ENST00000530292.3:c.3183-147_3183-145del	ENSP00000432885.2:n.3183-147_3183-145del
ENST00000635986.2:c.*553-147_*553-145del	ENSP00000490653.2:n.*553-147_*553-145del
ENST00000636774.1:c.*2087-147_*2087-145del	ENSP00000489799.1:n.*2087-147_*2087-145del
ENST00000637042.1:n.72-212_72-210del
ENST00000637238.1:c.2391-147_2391-145del	ENSP00000490756.1:n.2391-147_2391-145del
ENST00000637264.1:c.2555-207_2555-205del
ENST00000666746.1:c.3060-147_3060-145del
ENST00000672071.1:n.4538_4540del
ENST00000672695.1:n.1262-147_1262-145del
ENST00000672923.2:n.3483-147_3483-145del
ENST00000268124.9:c.3483-147_3483-145del	ENSP00000268124.5:n.3483-147_3483-145del
ENST00000442287.6:c.3483-147_3483-145del	ENSP00000399851.2:n.3483-147_3483-145del
ENST00000526671.1:n.146_148del
ENST00000530292.2:c.666-147_666-145del	ENSP00000432885.1:n.666-147_666-145del
ENST00000631044.2:c.*2907-147_*2907-145del	ENSP00000486730.1:n.*2907-147_*2907-145del
NM_001126131.1:c.3483-147_3483-145del	NP_001119603.1:n.3483-147_3483-145del
NM_002693.2:c.3483-147_3483-145del	NP_002684.1:n.3483-147_3483-145del
NM_001126131.2:c.3483-147_3483-145del	NP_001119603.1:n.3483-147_3483-145del
NM_002693.3:c.3483-147_3483-145del MANE Select	NP_002684.1:n.3483-147_3483-145del