Canonical Allele Identifier: CA2805167563

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317638_89317640del , CM000677.2:g.89317638_89317640del	GRCh38
NC_000015.9:g.89860869_89860871del , CM000677.1:g.89860869_89860871del	GRCh37
NC_000015.8:g.87661873_87661875del	NCBI36
NG_008218.1:g.22156_22158del
NG_011736.1:g.78676_78678del , LRG_500:g.78676_78678del
NG_008218.2:g.22156_22158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-104_3483-102del	ENSP00000516154.1:n.3483-104_3483-102del
ENST00000268124.11:c.3483-104_3483-102del MANE Select	ENSP00000268124.5:n.3483-104_3483-102del
ENST00000530292.3:c.3183-104_3183-102del	ENSP00000432885.2:n.3183-104_3183-102del
ENST00000635986.2:c.*553-104_*553-102del	ENSP00000490653.2:n.*553-104_*553-102del
ENST00000636774.1:c.*2087-104_*2087-102del	ENSP00000489799.1:n.*2087-104_*2087-102del
ENST00000637042.1:n.72-169_72-167del
ENST00000637238.1:c.2391-104_2391-102del	ENSP00000490756.1:n.2391-104_2391-102del
ENST00000637264.1:c.2555-164_2555-162del
ENST00000666746.1:c.3060-104_3060-102del
ENST00000672071.1:n.4581_4583del
ENST00000672695.1:n.1262-104_1262-102del
ENST00000672923.2:n.3483-104_3483-102del
ENST00000268124.9:c.3483-104_3483-102del	ENSP00000268124.5:n.3483-104_3483-102del
ENST00000442287.6:c.3483-104_3483-102del	ENSP00000399851.2:n.3483-104_3483-102del
ENST00000526671.1:n.189_191del
ENST00000530292.2:c.666-104_666-102del	ENSP00000432885.1:n.666-104_666-102del
ENST00000631044.2:c.*2907-104_*2907-102del	ENSP00000486730.1:n.*2907-104_*2907-102del
NM_001126131.1:c.3483-104_3483-102del	NP_001119603.1:n.3483-104_3483-102del
NM_002693.2:c.3483-104_3483-102del	NP_002684.1:n.3483-104_3483-102del
NM_001126131.2:c.3483-104_3483-102del	NP_001119603.1:n.3483-104_3483-102del
NM_002693.3:c.3483-104_3483-102del MANE Select	NP_002684.1:n.3483-104_3483-102del