Canonical Allele Identifier: CA619511616

Gene: POLG

Linked Data

• dbSNP Id: rs1406027057
• gnomAD v2: 15-89861567-AC-A
• MyVariant Identifiers: chr15:g.89861568del (hg19) ; chr15:g.89318337del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318339del , CM000677.2:g.89318339del	GRCh38
NC_000015.9:g.89861570del , CM000677.1:g.89861570del	GRCh37
NC_000015.8:g.87662574del	NCBI36
NG_008218.1:g.21459del
NG_011736.1:g.79377del , LRG_500:g.79377del
NG_008218.2:g.21459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+204del	ENSP00000516154.1:n.3482+204del
ENST00000268124.11:c.3482+204del MANE Select	ENSP00000268124.5:n.3482+204del
ENST00000530292.3:c.3083+204del	ENSP00000432885.2:n.3083+204del
ENST00000635986.2:c.*552+204del	ENSP00000490653.2:n.*552+204del
ENST00000636774.1:c.*2049+204del	ENSP00000489799.1:n.*2049+204del
ENST00000637238.1:c.2291+204del	ENSP00000490756.1:n.2291+204del
ENST00000637264.1:c.2554+204del
ENST00000666746.1:c.3059+204del
ENST00000672071.1:n.3884del
ENST00000672695.1:n.863del
ENST00000672923.2:n.3482+204del
ENST00000268124.9:c.3482+204del	ENSP00000268124.5:n.3482+204del
ENST00000442287.6:c.3482+204del	ENSP00000399851.2:n.3482+204del
ENST00000530292.2:c.566+204del	ENSP00000432885.1:n.566+204del
ENST00000631044.2:c.*2906+204del	ENSP00000486730.1:n.*2906+204del
NM_001126131.1:c.3482+204del	NP_001119603.1:n.3482+204del
NM_002693.2:c.3482+204del	NP_002684.1:n.3482+204del
NM_001126131.2:c.3482+204del	NP_001119603.1:n.3482+204del
NM_002693.3:c.3482+204del MANE Select	NP_002684.1:n.3482+204del