Canonical Allele Identifier: CA2805167532

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317578_89317583del , CM000677.2:g.89317578_89317583del	GRCh38
NC_000015.9:g.89860809_89860814del , CM000677.1:g.89860809_89860814del	GRCh37
NC_000015.8:g.87661813_87661818del	NCBI36
NG_008218.1:g.22213_22218del
NG_011736.1:g.78616_78621del , LRG_500:g.78616_78621del
NG_008218.2:g.22213_22218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-47_3483-42del	ENSP00000516154.1:n.3483-47_3483-42del
ENST00000268124.11:c.3483-47_3483-42del MANE Select	ENSP00000268124.5:n.3483-47_3483-42del
ENST00000530292.3:c.3183-47_3183-42del	ENSP00000432885.2:n.3183-47_3183-42del
ENST00000635986.2:c.*553-47_*553-42del	ENSP00000490653.2:n.*553-47_*553-42del
ENST00000636774.1:c.*2087-47_*2087-42del	ENSP00000489799.1:n.*2087-47_*2087-42del
ENST00000637042.1:n.72-112_72-107del
ENST00000637238.1:c.2391-47_2391-42del	ENSP00000490756.1:n.2391-47_2391-42del
ENST00000637264.1:c.2555-107_2555-102del
ENST00000666746.1:c.3060-47_3060-42del
ENST00000672071.1:n.4638_4643del
ENST00000672695.1:n.1262-47_1262-42del
ENST00000672923.2:n.3483-47_3483-42del
ENST00000268124.9:c.3483-47_3483-42del	ENSP00000268124.5:n.3483-47_3483-42del
ENST00000442287.6:c.3483-47_3483-42del	ENSP00000399851.2:n.3483-47_3483-42del
ENST00000526671.1:n.246_251del
ENST00000530292.2:c.666-47_666-42del	ENSP00000432885.1:n.666-47_666-42del
ENST00000631044.2:c.*2907-47_*2907-42del	ENSP00000486730.1:n.*2907-47_*2907-42del
NM_001126131.1:c.3483-47_3483-42del	NP_001119603.1:n.3483-47_3483-42del
NM_002693.2:c.3483-47_3483-42del	NP_002684.1:n.3483-47_3483-42del
NM_001126131.2:c.3483-47_3483-42del	NP_001119603.1:n.3483-47_3483-42del
NM_002693.3:c.3483-47_3483-42del MANE Select	NP_002684.1:n.3483-47_3483-42del