Canonical Allele Identifier: CA716880768

Gene: POLG

Linked Data

• dbSNP Id: rs1388732115
• gnomAD v3: 15-89318344-ACT-A
• gnomAD v4: 15-89318344-ACT-A
• MyVariant Identifiers: chr15:g.89861576_89861577del (hg19) ; chr15:g.89318345_89318346del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318347_89318348del , CM000677.2:g.89318347_89318348del	GRCh38
NC_000015.9:g.89861578_89861579del , CM000677.1:g.89861578_89861579del	GRCh37
NC_000015.8:g.87662582_87662583del	NCBI36
NG_008218.1:g.21450_21451del
NG_011736.1:g.79385_79386del , LRG_500:g.79385_79386del
NG_008218.2:g.21450_21451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+195_3482+196del	ENSP00000516154.1:n.3482+195_3482+196del
ENST00000268124.11:c.3482+195_3482+196del MANE Select	ENSP00000268124.5:n.3482+195_3482+196del
ENST00000530292.3:c.3083+195_3083+196del	ENSP00000432885.2:n.3083+195_3083+196del
ENST00000635986.2:c.*552+195_*552+196del	ENSP00000490653.2:n.*552+195_*552+196del
ENST00000636774.1:c.*2049+195_*2049+196del	ENSP00000489799.1:n.*2049+195_*2049+196del
ENST00000637238.1:c.2291+195_2291+196del	ENSP00000490756.1:n.2291+195_2291+196del
ENST00000637264.1:c.2554+195_2554+196del
ENST00000666746.1:c.3059+195_3059+196del
ENST00000672071.1:n.3875_3876del
ENST00000672695.1:n.854_855del
ENST00000672923.2:n.3482+195_3482+196del
ENST00000268124.9:c.3482+195_3482+196del	ENSP00000268124.5:n.3482+195_3482+196del
ENST00000442287.6:c.3482+195_3482+196del	ENSP00000399851.2:n.3482+195_3482+196del
ENST00000530292.2:c.566+195_566+196del	ENSP00000432885.1:n.566+195_566+196del
ENST00000631044.2:c.*2906+195_*2906+196del	ENSP00000486730.1:n.*2906+195_*2906+196del
NM_001126131.1:c.3482+195_3482+196del	NP_001119603.1:n.3482+195_3482+196del
NM_002693.2:c.3482+195_3482+196del	NP_002684.1:n.3482+195_3482+196del
NM_001126131.2:c.3482+195_3482+196del	NP_001119603.1:n.3482+195_3482+196del
NM_002693.3:c.3482+195_3482+196del MANE Select	NP_002684.1:n.3482+195_3482+196del