Canonical Allele Identifier: CA2843123977

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318521_89318522del , CM000677.2:g.89318521_89318522del	GRCh38
NC_000015.9:g.89861752_89861753del , CM000677.1:g.89861752_89861753del	GRCh37
NC_000015.8:g.87662756_87662757del	NCBI36
NG_008218.1:g.21276_21277del
NG_011736.1:g.79559_79560del , LRG_500:g.79559_79560del
NG_008218.2:g.21276_21277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+21_3482+22del	ENSP00000516154.1:n.3482+21_3482+22del
ENST00000268124.11:c.3482+21_3482+22del MANE Select	ENSP00000268124.5:n.3482+21_3482+22del
ENST00000530292.3:c.3083+21_3083+22del	ENSP00000432885.2:n.3083+21_3083+22del
ENST00000635986.2:c.*552+21_*552+22del	ENSP00000490653.2:n.*552+21_*552+22del
ENST00000636774.1:c.*2049+21_*2049+22del	ENSP00000489799.1:n.*2049+21_*2049+22del
ENST00000637238.1:c.2291+21_2291+22del	ENSP00000490756.1:n.2291+21_2291+22del
ENST00000637264.1:c.2554+21_2554+22del
ENST00000666746.1:c.3059+21_3059+22del
ENST00000672071.1:n.3701_3702del
ENST00000672695.1:n.680_681del
ENST00000672923.2:n.3482+21_3482+22del
ENST00000268124.9:c.3482+21_3482+22del	ENSP00000268124.5:n.3482+21_3482+22del
ENST00000442287.6:c.3482+21_3482+22del	ENSP00000399851.2:n.3482+21_3482+22del
ENST00000530292.2:c.566+21_566+22del	ENSP00000432885.1:n.566+21_566+22del
ENST00000631044.2:c.*2906+21_*2906+22del	ENSP00000486730.1:n.*2906+21_*2906+22del
NM_001126131.1:c.3482+21_3482+22del	NP_001119603.1:n.3482+21_3482+22del
NM_002693.2:c.3482+21_3482+22del	NP_002684.1:n.3482+21_3482+22del
NM_001126131.2:c.3482+21_3482+22del	NP_001119603.1:n.3482+21_3482+22del
NM_002693.3:c.3482+21_3482+22del MANE Select	NP_002684.1:n.3482+21_3482+22del