Canonical Allele Identifier: CA2805167557

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317632_89317638del , CM000677.2:g.89317632_89317638del	GRCh38
NC_000015.9:g.89860863_89860869del , CM000677.1:g.89860863_89860869del	GRCh37
NC_000015.8:g.87661867_87661873del	NCBI36
NG_008218.1:g.22158_22164del
NG_011736.1:g.78670_78676del , LRG_500:g.78670_78676del
NG_008218.2:g.22158_22164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-102_3483-96del	ENSP00000516154.1:n.3483-102_3483-96del
ENST00000268124.11:c.3483-102_3483-96del MANE Select	ENSP00000268124.5:n.3483-102_3483-96del
ENST00000530292.3:c.3183-102_3183-96del	ENSP00000432885.2:n.3183-102_3183-96del
ENST00000635986.2:c.*553-102_*553-96del	ENSP00000490653.2:n.*553-102_*553-96del
ENST00000636774.1:c.*2087-102_*2087-96del	ENSP00000489799.1:n.*2087-102_*2087-96del
ENST00000637042.1:n.72-167_72-161del
ENST00000637238.1:c.2391-102_2391-96del	ENSP00000490756.1:n.2391-102_2391-96del
ENST00000637264.1:c.2555-162_2555-156del
ENST00000666746.1:c.3060-102_3060-96del
ENST00000672071.1:n.4583_4589del
ENST00000672695.1:n.1262-102_1262-96del
ENST00000672923.2:n.3483-102_3483-96del
ENST00000268124.9:c.3483-102_3483-96del	ENSP00000268124.5:n.3483-102_3483-96del
ENST00000442287.6:c.3483-102_3483-96del	ENSP00000399851.2:n.3483-102_3483-96del
ENST00000526671.1:n.191_197del
ENST00000530292.2:c.666-102_666-96del	ENSP00000432885.1:n.666-102_666-96del
ENST00000631044.2:c.*2907-102_*2907-96del	ENSP00000486730.1:n.*2907-102_*2907-96del
NM_001126131.1:c.3483-102_3483-96del	NP_001119603.1:n.3483-102_3483-96del
NM_002693.2:c.3483-102_3483-96del	NP_002684.1:n.3483-102_3483-96del
NM_001126131.2:c.3483-102_3483-96del	NP_001119603.1:n.3483-102_3483-96del
NM_002693.3:c.3483-102_3483-96del MANE Select	NP_002684.1:n.3483-102_3483-96del