Canonical Allele Identifier: CA2194562501

Gene: POLG

Linked Data

• dbSNP Id: rs2055559459

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328953_89328956del , CM000677.2:g.89328953_89328956del	GRCh38
NC_000015.9:g.89872184_89872187del , CM000677.1:g.89872184_89872187del	GRCh37
NC_000015.8:g.87673188_87673191del	NCBI36
NG_008218.1:g.10840_10843del
NG_008218.2:g.10840_10843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1010_1013del	ENSP00000516154.1:p.Arg337LysfsTer27
ENST00000268124.11:c.1010_1013del MANE Select	ENSP00000268124.5:p.Arg337LysfsTer27
ENST00000530292.3:c.611_614del	ENSP00000432885.2:p.Arg204LysfsTer27
ENST00000635986.2:c.1010_1013del	ENSP00000490653.2:p.Arg337LysfsTer27
ENST00000636774.1:c.1010_1013del	ENSP00000489799.1:p.Arg337LysfsTer27
ENST00000637264.1:c.82_85del
ENST00000666746.1:c.667_670del
ENST00000672071.1:n.1208_1211del
ENST00000672923.2:n.7_10del
ENST00000268124.9:c.1010_1013del	ENSP00000268124.5:p.Arg337LysfsTer27
ENST00000442287.6:c.1010_1013del	ENSP00000399851.2:p.Arg337LysfsTer27
ENST00000631044.2:c.*393_*396del	ENSP00000486730.1:n.*393_*396del
NM_001126131.1:c.1010_1013del	NP_001119603.1:p.Arg337LysfsTer27
NM_002693.2:c.1010_1013del	NP_002684.1:p.Arg337LysfsTer27
NM_001126131.2:c.1010_1013del	NP_001119603.1:p.Arg337LysfsTer27
NM_002693.3:c.1010_1013del MANE Select	NP_002684.1:p.Arg337LysfsTer27