Canonical Allele Identifier: CA2194566145

Gene: POLG POLGARF

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330419_89330422delinsCAAA , CM000677.2:g.89330419_89330422delinsCAAA	GRCh38
NC_000015.9:g.89873650_89873653delinsCAAA , CM000677.1:g.89873650_89873653delinsCAAA	GRCh37
NC_000015.8:g.87674654_87674657delinsCAAA	NCBI36
NG_008218.1:g.9374_9377delinsTTTG
NG_008218.2:g.9374_9377delinsTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.660-146_660-143delinsTTTG (POLG)	ENSP00000516154.1:n.660-146_660-143delinsTTTG
ENST00000706918.1:c.715-146_715-143delinsTTTG (POLGARF)	ENSP00000516626.1:n.715-146_715-143delinsTTTG
ENST00000268124.11:c.660-146_660-143delinsTTTG (POLG) MANE Select	ENSP00000268124.5:n.660-146_660-143delinsTTTG
ENST00000530292.3:c.261-146_261-143delinsTTTG (POLG)	ENSP00000432885.2:n.261-146_261-143delinsTTTG
ENST00000635986.2:c.660-146_660-143delinsTTTG (POLG)	ENSP00000490653.2:n.660-146_660-143delinsTTTG
ENST00000636774.1:c.660-146_660-143delinsTTTG (POLG)	ENSP00000489799.1:n.660-146_660-143delinsTTTG
ENST00000637307.1:c.50-161_50-158delinsTTTG (POLG)
ENST00000650303.2:c.715-146_715-143delinsTTTG (POLG)	ENSP00000497242.2:n.715-146_715-143delinsTTTG
ENST00000666746.1:c.317-146_317-143delinsTTTG (POLG)
ENST00000672071.1:n.858-146_858-143delinsTTTG (POLG)
ENST00000268124.9:c.660-146_660-143delinsTTTG (POLG)	ENSP00000268124.5:n.660-146_660-143delinsTTTG
ENST00000442287.6:c.660-146_660-143delinsTTTG (POLG)	ENSP00000399851.2:n.660-146_660-143delinsTTTG
ENST00000631044.2:c.*43-146_*43-143delinsTTTG (POLG)	ENSP00000486730.1:n.*43-146_*43-143delinsTTTG
NM_001126131.1:c.660-146_660-143delinsTTTG (POLG)	NP_001119603.1:n.660-146_660-143delinsTTTG
NM_002693.2:c.660-146_660-143delinsTTTG (POLG)	NP_002684.1:n.660-146_660-143delinsTTTG
NM_001126131.2:c.660-146_660-143delinsTTTG (POLG)	NP_001119603.1:n.660-146_660-143delinsTTTG
NM_002693.3:c.660-146_660-143delinsTTTG (POLG) MANE Select	NP_002684.1:n.660-146_660-143delinsTTTG