Canonical Allele Identifier: CA7725191

Gene: POLG POLGARF

Linked Data

• dbSNP Id: rs746903497
• ExAC: 15:89876849 TGCTGCTGCTGCC / T
• gnomAD v4: 15-89333618-TGCTGCTGCTGCC-T
• MyVariant Identifiers: chr15:g.89876850_89876861del (hg19) ; chr15:g.89333619_89333630del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333621_89333632del , CM000677.2:g.89333621_89333632del	GRCh38
NC_000015.9:g.89876852_89876863del , CM000677.1:g.89876852_89876863del	GRCh37
NC_000015.8:g.87677856_87677867del	NCBI36
NG_008218.1:g.6166_6177del
NG_008218.2:g.6166_6177del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.125_136del (POLG)	ENSP00000516154.1:p.Arg42_Gln45del
ENST00000706918.1:c.180_191del (POLGARF)	ENSP00000516626.1:p.Ala61_Ala64del
ENST00000268124.11:c.125_136del (POLG) MANE Select	ENSP00000268124.5:p.Arg42_Gln45del
ENST00000635986.2:c.125_136del (POLG)	ENSP00000490653.2:p.Arg42_Gln45del
ENST00000636774.1:c.125_136del (POLG)	ENSP00000489799.1:p.Arg42_Gln45del
ENST00000650303.2:c.180_191del (POLG)	ENSP00000497242.2:p.Ala61_Ala64del
ENST00000672071.1:n.323_334del (POLG)
ENST00000268124.9:c.125_136del (POLG)	ENSP00000268124.5:p.Arg42_Gln45del
ENST00000442287.6:c.125_136del (POLG)	ENSP00000399851.2:p.Arg42_Gln45del
ENST00000631044.2:c.125_136del (POLG)	ENSP00000486730.1:p.Arg42_Gln45del
NM_001126131.1:c.125_136del (POLG)	NP_001119603.1:p.Arg42_Gln45del
NM_002693.2:c.125_136del (POLG)	NP_002684.1:p.Arg42_Gln45del
NM_001126131.2:c.125_136del (POLG)	NP_001119603.1:p.Arg42_Gln45del
NM_002693.3:c.125_136del (POLG) MANE Select	NP_002684.1:p.Arg42_Gln45del