Canonical Allele Identifier: CA2580612692

Gene: POLG

Linked Data

• ClinVar Variation Id: 2137962
• ClinVar RCV Id: RCV003064418
• gnomAD v4: 15-89318697-AAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318701_89318703del , CM000677.2:g.89318701_89318703del	GRCh38
NC_000015.9:g.89861932_89861934del , CM000677.1:g.89861932_89861934del	GRCh37
NC_000015.8:g.87662936_87662938del	NCBI36
NG_008218.1:g.21096_21098del
NG_011736.1:g.79739_79741del , LRG_500:g.79739_79741del
NG_008218.2:g.21096_21098del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3323_3325del	ENSP00000516154.1:p.Tyr1108del
ENST00000268124.11:c.3323_3325del MANE Select	ENSP00000268124.5:p.Tyr1108del
ENST00000530292.3:c.2924_2926del	ENSP00000432885.2:p.Tyr975del
ENST00000635986.2:c.*393_*395del	ENSP00000490653.2:n.*393_*395del
ENST00000636774.1:c.*1890_*1892del	ENSP00000489799.1:n.*1890_*1892del
ENST00000637238.1:c.2132_2134del	ENSP00000490756.1:n.2132_2134del
ENST00000637264.1:c.2395_2397del
ENST00000666746.1:c.2900_2902del
ENST00000672071.1:n.3521_3523del
ENST00000672695.1:n.500_502del
ENST00000672923.2:n.3323_3325del
ENST00000268124.9:c.3323_3325del	ENSP00000268124.5:p.Tyr1108del
ENST00000442287.6:c.3323_3325del	ENSP00000399851.2:p.Tyr1108del
ENST00000530292.2:c.407_409del	ENSP00000432885.1:p.Tyr136del
ENST00000631044.2:c.*2747_*2749del	ENSP00000486730.1:n.*2747_*2749del
NM_001126131.1:c.3323_3325del	NP_001119603.1:p.Tyr1108del
NM_002693.2:c.3323_3325del	NP_002684.1:p.Tyr1108del
NM_001126131.2:c.3323_3325del	NP_001119603.1:p.Tyr1108del
NM_002693.3:c.3323_3325del MANE Select	NP_002684.1:p.Tyr1108del