Canonical Allele Identifier: CA2575828577

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318466_89318467del , CM000677.2:g.89318466_89318467del	GRCh38
NC_000015.9:g.89861697_89861698del , CM000677.1:g.89861697_89861698del	GRCh37
NC_000015.8:g.87662701_87662702del	NCBI36
NG_008218.1:g.21330_21331del
NG_011736.1:g.79504_79505del , LRG_500:g.79504_79505del
NG_008218.2:g.21330_21331del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+75_3482+76del	ENSP00000516154.1:n.3482+75_3482+76del
ENST00000268124.11:c.3482+75_3482+76del MANE Select	ENSP00000268124.5:n.3482+75_3482+76del
ENST00000530292.3:c.3083+75_3083+76del	ENSP00000432885.2:n.3083+75_3083+76del
ENST00000635986.2:c.*552+75_*552+76del	ENSP00000490653.2:n.*552+75_*552+76del
ENST00000636774.1:c.*2049+75_*2049+76del	ENSP00000489799.1:n.*2049+75_*2049+76del
ENST00000637238.1:c.2291+75_2291+76del	ENSP00000490756.1:n.2291+75_2291+76del
ENST00000637264.1:c.2554+75_2554+76del
ENST00000666746.1:c.3059+75_3059+76del
ENST00000672071.1:n.3755_3756del
ENST00000672695.1:n.734_735del
ENST00000672923.2:n.3482+75_3482+76del
ENST00000268124.9:c.3482+75_3482+76del	ENSP00000268124.5:n.3482+75_3482+76del
ENST00000442287.6:c.3482+75_3482+76del	ENSP00000399851.2:n.3482+75_3482+76del
ENST00000530292.2:c.566+75_566+76del	ENSP00000432885.1:n.566+75_566+76del
ENST00000631044.2:c.*2906+75_*2906+76del	ENSP00000486730.1:n.*2906+75_*2906+76del
NM_001126131.1:c.3482+75_3482+76del	NP_001119603.1:n.3482+75_3482+76del
NM_002693.2:c.3482+75_3482+76del	NP_002684.1:n.3482+75_3482+76del
NM_001126131.2:c.3482+75_3482+76del	NP_001119603.1:n.3482+75_3482+76del
NM_002693.3:c.3482+75_3482+76del MANE Select	NP_002684.1:n.3482+75_3482+76del