Canonical Allele Identifier: CA2630255299

Gene: POLG

Linked Data

• gnomAD v4: 15-89317647-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317651del , CM000677.2:g.89317651del	GRCh38
NC_000015.9:g.89860882del , CM000677.1:g.89860882del	GRCh37
NC_000015.8:g.87661886del	NCBI36
NG_008218.1:g.22148del
NG_011736.1:g.78689del , LRG_500:g.78689del
NG_008218.2:g.22148del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-112del	ENSP00000516154.1:n.3483-112del
ENST00000268124.11:c.3483-112del MANE Select	ENSP00000268124.5:n.3483-112del
ENST00000530292.3:c.3183-112del	ENSP00000432885.2:n.3183-112del
ENST00000635986.2:c.*553-112del	ENSP00000490653.2:n.*553-112del
ENST00000636774.1:c.*2087-112del	ENSP00000489799.1:n.*2087-112del
ENST00000637042.1:n.72-177del
ENST00000637238.1:c.2391-112del	ENSP00000490756.1:n.2391-112del
ENST00000637264.1:c.2555-172del
ENST00000666746.1:c.3060-112del
ENST00000672071.1:n.4573del
ENST00000672695.1:n.1262-112del
ENST00000672923.2:n.3483-112del
ENST00000268124.9:c.3483-112del	ENSP00000268124.5:n.3483-112del
ENST00000442287.6:c.3483-112del	ENSP00000399851.2:n.3483-112del
ENST00000526671.1:n.181del
ENST00000530292.2:c.666-112del	ENSP00000432885.1:n.666-112del
ENST00000631044.2:c.*2907-112del	ENSP00000486730.1:n.*2907-112del
NM_001126131.1:c.3483-112del	NP_001119603.1:n.3483-112del
NM_002693.2:c.3483-112del	NP_002684.1:n.3483-112del
NM_001126131.2:c.3483-112del	NP_001119603.1:n.3483-112del
NM_002693.3:c.3483-112del MANE Select	NP_002684.1:n.3483-112del