Canonical Allele Identifier: CA2805167590

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317684_89317685del , CM000677.2:g.89317684_89317685del	GRCh38
NC_000015.9:g.89860915_89860916del , CM000677.1:g.89860915_89860916del	GRCh37
NC_000015.8:g.87661919_87661920del	NCBI36
NG_008218.1:g.22111_22112del
NG_011736.1:g.78722_78723del , LRG_500:g.78722_78723del
NG_008218.2:g.22111_22112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-149_3483-148del	ENSP00000516154.1:n.3483-149_3483-148del
ENST00000268124.11:c.3483-149_3483-148del MANE Select	ENSP00000268124.5:n.3483-149_3483-148del
ENST00000530292.3:c.3183-149_3183-148del	ENSP00000432885.2:n.3183-149_3183-148del
ENST00000635986.2:c.*553-149_*553-148del	ENSP00000490653.2:n.*553-149_*553-148del
ENST00000636774.1:c.*2087-149_*2087-148del	ENSP00000489799.1:n.*2087-149_*2087-148del
ENST00000637042.1:n.72-214_72-213del
ENST00000637238.1:c.2391-149_2391-148del	ENSP00000490756.1:n.2391-149_2391-148del
ENST00000637264.1:c.2555-209_2555-208del
ENST00000666746.1:c.3060-149_3060-148del
ENST00000672071.1:n.4536_4537del
ENST00000672695.1:n.1262-149_1262-148del
ENST00000672923.2:n.3483-149_3483-148del
ENST00000268124.9:c.3483-149_3483-148del	ENSP00000268124.5:n.3483-149_3483-148del
ENST00000442287.6:c.3483-149_3483-148del	ENSP00000399851.2:n.3483-149_3483-148del
ENST00000526671.1:n.144_145del
ENST00000530292.2:c.666-149_666-148del	ENSP00000432885.1:n.666-149_666-148del
ENST00000631044.2:c.*2907-149_*2907-148del	ENSP00000486730.1:n.*2907-149_*2907-148del
NM_001126131.1:c.3483-149_3483-148del	NP_001119603.1:n.3483-149_3483-148del
NM_002693.2:c.3483-149_3483-148del	NP_002684.1:n.3483-149_3483-148del
NM_001126131.2:c.3483-149_3483-148del	NP_001119603.1:n.3483-149_3483-148del
NM_002693.3:c.3483-149_3483-148del MANE Select	NP_002684.1:n.3483-149_3483-148del