Canonical Allele Identifier: CA2630255086

Gene: POLG

Linked Data

• gnomAD v4: 15-89317499-G-GCAAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317502_89317506dup , CM000677.2:g.89317502_89317506dup	GRCh38
NC_000015.9:g.89860733_89860737dup , CM000677.1:g.89860733_89860737dup	GRCh37
NC_000015.8:g.87661737_87661741dup	NCBI36
NG_008218.1:g.22292_22296dup
NG_011736.1:g.78540_78544dup , LRG_500:g.78540_78544dup
NG_008218.2:g.22292_22296dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3515_3519dup	ENSP00000516154.1:p.Pro1174ThrfsTer22
ENST00000268124.11:c.3515_3519dup MANE Select	ENSP00000268124.5:p.Pro1174ThrfsTer22
ENST00000530292.3:c.3215_3219dup	ENSP00000432885.2:n.3215_3219dup
ENST00000635986.2:c.*585_*589dup	ENSP00000490653.2:n.*585_*589dup
ENST00000636774.1:c.*2119_*2123dup	ENSP00000489799.1:n.*2119_*2123dup
ENST00000637042.1:n.72-33_72-29dup
ENST00000637238.1:c.2423_2427dup	ENSP00000490756.1:n.2423_2427dup
ENST00000637264.1:c.2555-28_2555-24dup
ENST00000666746.1:c.3092_3096dup
ENST00000672071.1:n.4717_4721dup
ENST00000672695.1:n.1294_1298dup
ENST00000672923.2:n.3515_3519dup
ENST00000268124.9:c.3515_3519dup	ENSP00000268124.5:p.Pro1174ThrfsTer22
ENST00000442287.6:c.3515_3519dup	ENSP00000399851.2:p.Pro1174ThrfsTer22
ENST00000526671.1:n.325_329dup
ENST00000530292.2:c.698_702dup	ENSP00000432885.1:n.698_702dup
ENST00000631044.2:c.*2939_*2943dup	ENSP00000486730.1:n.*2939_*2943dup
NM_001126131.1:c.3515_3519dup	NP_001119603.1:p.Pro1174ThrfsTer22
NM_002693.2:c.3515_3519dup	NP_002684.1:p.Pro1174ThrfsTer22
NM_001126131.2:c.3515_3519dup	NP_001119603.1:p.Pro1174ThrfsTer22
NM_002693.3:c.3515_3519dup MANE Select	NP_002684.1:p.Pro1174ThrfsTer22