Canonical Allele Identifier: CA7724109
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 619313
ClinVar RCV Id: RCV000758281 RCV001838129 RCV003985816
dbSNP Id: rs756325504
ExAC: 15:89860752 GTAGGCAAACATGCACCTGA / G
gnomAD v2: 15-89860752-GTAGGCAAACATGCACCTGA-G
gnomAD v3: 15-89317521-GTAGGCAAACATGCACCTGA-G
gnomAD v4: 15-89317521-GTAGGCAAACATGCACCTGA-G
MyVariant Identifiers: chr15:g.89860753_89860771del (hg19) chr15:g.89317522_89317540del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317522_89317540del , CM000677.2:g.89317522_89317540del GRCh38
NC_000015.9:g.89860753_89860771del , CM000677.1:g.89860753_89860771del GRCh37
NC_000015.8:g.87661757_87661775del NCBI36
NG_008218.1:g.22256_22274del
NG_011736.1:g.78560_78578del , LRG_500:g.78560_78578del
NG_008218.2:g.22256_22274del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3483-4_3497del
ENST00000268124.11:c.3483-4_3497del
ENST00000530292.3:c.3183-4_3197del
ENST00000635986.2:c.*553-4_*567del
ENST00000636774.1:c.*2087-4_*2101del
ENST00000637042.1:n.72-69_72-51del
ENST00000637238.1:c.2391-4_2405del
ENST00000637264.1:c.2555-64_2555-46del
ENST00000666746.1:c.3060-4_3074del
ENST00000672071.1:n.4681_4699del
ENST00000672695.1:n.1262-4_1276del
ENST00000672923.2:n.3483-4_3497del
ENST00000268124.9:c.3483-4_3497del
ENST00000442287.6:c.3483-4_3497del
ENST00000526671.1:n.289_307del
ENST00000530292.2:c.666-4_680del
ENST00000631044.2:c.*2907-4_*2921del
NM_001126131.1:c.3483-4_3497del
NM_002693.2:c.3483-4_3497del
NM_001126131.2:c.3483-4_3497del
NM_002693.3:c.3483-4_3497del
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