Canonical Allele Identifier: CA2805167565

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317640_89317659del , CM000677.2:g.89317640_89317659del	GRCh38
NC_000015.9:g.89860871_89860890del , CM000677.1:g.89860871_89860890del	GRCh37
NC_000015.8:g.87661875_87661894del	NCBI36
NG_008218.1:g.22137_22156del
NG_011736.1:g.78678_78697del , LRG_500:g.78678_78697del
NG_008218.2:g.22137_22156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-123_3483-104del	ENSP00000516154.1:n.3483-123_3483-104del
ENST00000268124.11:c.3483-123_3483-104del MANE Select	ENSP00000268124.5:n.3483-123_3483-104del
ENST00000530292.3:c.3183-123_3183-104del	ENSP00000432885.2:n.3183-123_3183-104del
ENST00000635986.2:c.*553-123_*553-104del	ENSP00000490653.2:n.*553-123_*553-104del
ENST00000636774.1:c.*2087-123_*2087-104del	ENSP00000489799.1:n.*2087-123_*2087-104del
ENST00000637042.1:n.72-188_72-169del
ENST00000637238.1:c.2391-123_2391-104del	ENSP00000490756.1:n.2391-123_2391-104del
ENST00000637264.1:c.2555-183_2555-164del
ENST00000666746.1:c.3060-123_3060-104del
ENST00000672071.1:n.4562_4581del
ENST00000672695.1:n.1262-123_1262-104del
ENST00000672923.2:n.3483-123_3483-104del
ENST00000268124.9:c.3483-123_3483-104del	ENSP00000268124.5:n.3483-123_3483-104del
ENST00000442287.6:c.3483-123_3483-104del	ENSP00000399851.2:n.3483-123_3483-104del
ENST00000526671.1:n.170_189del
ENST00000530292.2:c.666-123_666-104del	ENSP00000432885.1:n.666-123_666-104del
ENST00000631044.2:c.*2907-123_*2907-104del	ENSP00000486730.1:n.*2907-123_*2907-104del
NM_001126131.1:c.3483-123_3483-104del	NP_001119603.1:n.3483-123_3483-104del
NM_002693.2:c.3483-123_3483-104del	NP_002684.1:n.3483-123_3483-104del
NM_001126131.2:c.3483-123_3483-104del	NP_001119603.1:n.3483-123_3483-104del
NM_002693.3:c.3483-123_3483-104del MANE Select	NP_002684.1:n.3483-123_3483-104del