Canonical Allele Identifier: CA2630251251

Gene: POLG

Linked Data

• gnomAD v4: 15-89318399-A-AATT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318401_89318403dup , CM000677.2:g.89318401_89318403dup	GRCh38
NC_000015.9:g.89861632_89861634dup , CM000677.1:g.89861632_89861634dup	GRCh37
NC_000015.8:g.87662636_87662638dup	NCBI36
NG_008218.1:g.21394_21396dup
NG_011736.1:g.79439_79441dup , LRG_500:g.79439_79441dup
NG_008218.2:g.21394_21396dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+139_3482+141dup	ENSP00000516154.1:n.3482+139_3482+141dup
ENST00000268124.11:c.3482+139_3482+141dup MANE Select	ENSP00000268124.5:n.3482+139_3482+141dup
ENST00000530292.3:c.3083+139_3083+141dup	ENSP00000432885.2:n.3083+139_3083+141dup
ENST00000635986.2:c.*552+139_*552+141dup	ENSP00000490653.2:n.*552+139_*552+141dup
ENST00000636774.1:c.*2049+139_*2049+141dup	ENSP00000489799.1:n.*2049+139_*2049+141dup
ENST00000637238.1:c.2291+139_2291+141dup	ENSP00000490756.1:n.2291+139_2291+141dup
ENST00000637264.1:c.2554+139_2554+141dup
ENST00000666746.1:c.3059+139_3059+141dup
ENST00000672071.1:n.3819_3821dup
ENST00000672695.1:n.798_800dup
ENST00000672923.2:n.3482+139_3482+141dup
ENST00000268124.9:c.3482+139_3482+141dup	ENSP00000268124.5:n.3482+139_3482+141dup
ENST00000442287.6:c.3482+139_3482+141dup	ENSP00000399851.2:n.3482+139_3482+141dup
ENST00000530292.2:c.566+139_566+141dup	ENSP00000432885.1:n.566+139_566+141dup
ENST00000631044.2:c.*2906+139_*2906+141dup	ENSP00000486730.1:n.*2906+139_*2906+141dup
NM_001126131.1:c.3482+139_3482+141dup	NP_001119603.1:n.3482+139_3482+141dup
NM_002693.2:c.3482+139_3482+141dup	NP_002684.1:n.3482+139_3482+141dup
NM_001126131.2:c.3482+139_3482+141dup	NP_001119603.1:n.3482+139_3482+141dup
NM_002693.3:c.3482+139_3482+141dup MANE Select	NP_002684.1:n.3482+139_3482+141dup