Canonical Allele Identifier: CA2194550135

Gene: POLG

Linked Data

• dbSNP Id: rs2055398008

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321674_89321675del , CM000677.2:g.89321674_89321675del	GRCh38
NC_000015.9:g.89864905_89864906del , CM000677.1:g.89864905_89864906del	GRCh37
NC_000015.8:g.87665909_87665910del	NCBI36
NG_008218.1:g.18123_18124del
NG_008218.2:g.18123_18124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2598+63_2598+64del	ENSP00000516154.1:n.2598+63_2598+64del
ENST00000268124.11:c.2598+63_2598+64del MANE Select	ENSP00000268124.5:n.2598+63_2598+64del
ENST00000530292.3:c.2199+63_2199+64del	ENSP00000432885.2:n.2199+63_2199+64del
ENST00000635986.2:c.2598+63_2598+64del	ENSP00000490653.2:n.2598+63_2598+64del
ENST00000636774.1:c.*1165+63_*1165+64del	ENSP00000489799.1:n.*1165+63_*1165+64del
ENST00000637238.1:c.1295+63_1295+64del	ENSP00000490756.1:n.1295+63_1295+64del
ENST00000637264.1:c.1670+63_1670+64del
ENST00000666746.1:c.2175+63_2175+64del
ENST00000670281.1:c.800+289_800+290del	ENSP00000499709.1:n.800+289_800+290del
ENST00000672071.1:n.2796+63_2796+64del
ENST00000672923.2:n.2540+63_2540+64del
ENST00000268124.9:c.2598+63_2598+64del	ENSP00000268124.5:n.2598+63_2598+64del
ENST00000442287.6:c.2598+63_2598+64del	ENSP00000399851.2:n.2598+63_2598+64del
ENST00000528881.2:c.196-413_196-412del
ENST00000530715.5:c.186-804_186-803del	ENSP00000431395.1:n.186-804_186-803del
ENST00000631044.2:c.*2022+63_*2022+64del	ENSP00000486730.1:n.*2022+63_*2022+64del
NM_001126131.1:c.2598+63_2598+64del	NP_001119603.1:n.2598+63_2598+64del
NM_002693.2:c.2598+63_2598+64del	NP_002684.1:n.2598+63_2598+64del
NM_001126131.2:c.2598+63_2598+64del	NP_001119603.1:n.2598+63_2598+64del
NM_002693.3:c.2598+63_2598+64del MANE Select	NP_002684.1:n.2598+63_2598+64del