Canonical Allele Identifier: CA2630255291

Gene: POLG

Linked Data

• gnomAD v4: 15-89317644-AACACCCCATCTGTTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317647_89317661del , CM000677.2:g.89317647_89317661del	GRCh38
NC_000015.9:g.89860878_89860892del , CM000677.1:g.89860878_89860892del	GRCh37
NC_000015.8:g.87661882_87661896del	NCBI36
NG_008218.1:g.22137_22151del
NG_011736.1:g.78685_78699del , LRG_500:g.78685_78699del
NG_008218.2:g.22137_22151del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-123_3483-109del	ENSP00000516154.1:n.3483-123_3483-109del
ENST00000268124.11:c.3483-123_3483-109del MANE Select	ENSP00000268124.5:n.3483-123_3483-109del
ENST00000530292.3:c.3183-123_3183-109del	ENSP00000432885.2:n.3183-123_3183-109del
ENST00000635986.2:c.*553-123_*553-109del	ENSP00000490653.2:n.*553-123_*553-109del
ENST00000636774.1:c.*2087-123_*2087-109del	ENSP00000489799.1:n.*2087-123_*2087-109del
ENST00000637042.1:n.72-188_72-174del
ENST00000637238.1:c.2391-123_2391-109del	ENSP00000490756.1:n.2391-123_2391-109del
ENST00000637264.1:c.2555-183_2555-169del
ENST00000666746.1:c.3060-123_3060-109del
ENST00000672071.1:n.4562_4576del
ENST00000672695.1:n.1262-123_1262-109del
ENST00000672923.2:n.3483-123_3483-109del
ENST00000268124.9:c.3483-123_3483-109del	ENSP00000268124.5:n.3483-123_3483-109del
ENST00000442287.6:c.3483-123_3483-109del	ENSP00000399851.2:n.3483-123_3483-109del
ENST00000526671.1:n.170_184del
ENST00000530292.2:c.666-123_666-109del	ENSP00000432885.1:n.666-123_666-109del
ENST00000631044.2:c.*2907-123_*2907-109del	ENSP00000486730.1:n.*2907-123_*2907-109del
NM_001126131.1:c.3483-123_3483-109del	NP_001119603.1:n.3483-123_3483-109del
NM_002693.2:c.3483-123_3483-109del	NP_002684.1:n.3483-123_3483-109del
NM_001126131.2:c.3483-123_3483-109del	NP_001119603.1:n.3483-123_3483-109del
NM_002693.3:c.3483-123_3483-109del MANE Select	NP_002684.1:n.3483-123_3483-109del