Canonical Allele Identifier: CA2630251250

Gene: POLG

Linked Data

• gnomAD v4: 15-89318395-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318399_89318400del , CM000677.2:g.89318399_89318400del	GRCh38
NC_000015.9:g.89861630_89861631del , CM000677.1:g.89861630_89861631del	GRCh37
NC_000015.8:g.87662634_87662635del	NCBI36
NG_008218.1:g.21399_21400del
NG_011736.1:g.79437_79438del , LRG_500:g.79437_79438del
NG_008218.2:g.21399_21400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+144_3482+145del	ENSP00000516154.1:n.3482+144_3482+145del
ENST00000268124.11:c.3482+144_3482+145del MANE Select	ENSP00000268124.5:n.3482+144_3482+145del
ENST00000530292.3:c.3083+144_3083+145del	ENSP00000432885.2:n.3083+144_3083+145del
ENST00000635986.2:c.*552+144_*552+145del	ENSP00000490653.2:n.*552+144_*552+145del
ENST00000636774.1:c.*2049+144_*2049+145del	ENSP00000489799.1:n.*2049+144_*2049+145del
ENST00000637238.1:c.2291+144_2291+145del	ENSP00000490756.1:n.2291+144_2291+145del
ENST00000637264.1:c.2554+144_2554+145del
ENST00000666746.1:c.3059+144_3059+145del
ENST00000672071.1:n.3824_3825del
ENST00000672695.1:n.803_804del
ENST00000672923.2:n.3482+144_3482+145del
ENST00000268124.9:c.3482+144_3482+145del	ENSP00000268124.5:n.3482+144_3482+145del
ENST00000442287.6:c.3482+144_3482+145del	ENSP00000399851.2:n.3482+144_3482+145del
ENST00000530292.2:c.566+144_566+145del	ENSP00000432885.1:n.566+144_566+145del
ENST00000631044.2:c.*2906+144_*2906+145del	ENSP00000486730.1:n.*2906+144_*2906+145del
NM_001126131.1:c.3482+144_3482+145del	NP_001119603.1:n.3482+144_3482+145del
NM_002693.2:c.3482+144_3482+145del	NP_002684.1:n.3482+144_3482+145del
NM_001126131.2:c.3482+144_3482+145del	NP_001119603.1:n.3482+144_3482+145del
NM_002693.3:c.3482+144_3482+145del MANE Select	NP_002684.1:n.3482+144_3482+145del