Canonical Allele Identifier: CA972593005

Gene: POLG

Linked Data

• dbSNP Id: rs2055335439
• gnomAD v3: 15-89318307-TGATCAGTCTTGGTATTTCACATTTTCAA-T
• gnomAD v4: 15-89318307-TGATCAGTCTTGGTATTTCACATTTTCAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318308_89318335del , CM000677.2:g.89318308_89318335del	GRCh38
NC_000015.9:g.89861539_89861566del , CM000677.1:g.89861539_89861566del	GRCh37
NC_000015.8:g.87662543_87662570del	NCBI36
NG_008218.1:g.21461_21488del
NG_011736.1:g.79346_79373del , LRG_500:g.79346_79373del
NG_008218.2:g.21461_21488del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+206_3482+233del	ENSP00000516154.1:n.3482+206_3482+233del
ENST00000268124.11:c.3482+206_3482+233del MANE Select	ENSP00000268124.5:n.3482+206_3482+233del
ENST00000530292.3:c.3083+206_3083+233del	ENSP00000432885.2:n.3083+206_3083+233del
ENST00000635986.2:c.*552+206_*552+233del	ENSP00000490653.2:n.*552+206_*552+233del
ENST00000636774.1:c.*2049+206_*2049+233del	ENSP00000489799.1:n.*2049+206_*2049+233del
ENST00000637238.1:c.2291+206_2291+233del	ENSP00000490756.1:n.2291+206_2291+233del
ENST00000637264.1:c.2554+206_2554+233del
ENST00000666746.1:c.3059+206_3059+233del
ENST00000672071.1:n.3886_3913del
ENST00000672695.1:n.865_892del
ENST00000672923.2:n.3482+206_3482+233del
ENST00000268124.9:c.3482+206_3482+233del	ENSP00000268124.5:n.3482+206_3482+233del
ENST00000442287.6:c.3482+206_3482+233del	ENSP00000399851.2:n.3482+206_3482+233del
ENST00000530292.2:c.566+206_566+233del	ENSP00000432885.1:n.566+206_566+233del
ENST00000631044.2:c.*2906+206_*2906+233del	ENSP00000486730.1:n.*2906+206_*2906+233del
NM_001126131.1:c.3482+206_3482+233del	NP_001119603.1:n.3482+206_3482+233del
NM_002693.2:c.3482+206_3482+233del	NP_002684.1:n.3482+206_3482+233del
NM_001126131.2:c.3482+206_3482+233del	NP_001119603.1:n.3482+206_3482+233del
NM_002693.3:c.3482+206_3482+233del MANE Select	NP_002684.1:n.3482+206_3482+233del