Canonical Allele Identifier: CA2194539899

Gene: POLG

Linked Data

• dbSNP Id: rs2055319540
• gnomAD v4: 15-89317693-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317694_89317695del , CM000677.2:g.89317694_89317695del	GRCh38
NC_000015.9:g.89860925_89860926del , CM000677.1:g.89860925_89860926del	GRCh37
NC_000015.8:g.87661929_87661930del	NCBI36
NG_008218.1:g.22101_22102del
NG_011736.1:g.78732_78733del , LRG_500:g.78732_78733del
NG_008218.2:g.22101_22102del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-159_3483-158del	ENSP00000516154.1:n.3483-159_3483-158del
ENST00000268124.11:c.3483-159_3483-158del MANE Select	ENSP00000268124.5:n.3483-159_3483-158del
ENST00000530292.3:c.3183-159_3183-158del	ENSP00000432885.2:n.3183-159_3183-158del
ENST00000635986.2:c.*553-159_*553-158del	ENSP00000490653.2:n.*553-159_*553-158del
ENST00000636774.1:c.*2087-159_*2087-158del	ENSP00000489799.1:n.*2087-159_*2087-158del
ENST00000637042.1:n.72-224_72-223del
ENST00000637238.1:c.2391-159_2391-158del	ENSP00000490756.1:n.2391-159_2391-158del
ENST00000637264.1:c.2555-219_2555-218del
ENST00000666746.1:c.3060-159_3060-158del
ENST00000672071.1:n.4526_4527del
ENST00000672695.1:n.1262-159_1262-158del
ENST00000672923.2:n.3483-159_3483-158del
ENST00000268124.9:c.3483-159_3483-158del	ENSP00000268124.5:n.3483-159_3483-158del
ENST00000442287.6:c.3483-159_3483-158del	ENSP00000399851.2:n.3483-159_3483-158del
ENST00000526671.1:n.134_135del
ENST00000530292.2:c.666-159_666-158del	ENSP00000432885.1:n.666-159_666-158del
ENST00000631044.2:c.*2907-159_*2907-158del	ENSP00000486730.1:n.*2907-159_*2907-158del
NM_001126131.1:c.3483-159_3483-158del	NP_001119603.1:n.3483-159_3483-158del
NM_002693.2:c.3483-159_3483-158del	NP_002684.1:n.3483-159_3483-158del
NM_001126131.2:c.3483-159_3483-158del	NP_001119603.1:n.3483-159_3483-158del
NM_002693.3:c.3483-159_3483-158del MANE Select	NP_002684.1:n.3483-159_3483-158del