Canonical Allele Identifier: CA2630251701

Gene: POLG

Linked Data

• gnomAD v4: 15-89318588-GTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318595_89318597del , CM000677.2:g.89318595_89318597del	GRCh38
NC_000015.9:g.89861826_89861828del , CM000677.1:g.89861826_89861828del	GRCh37
NC_000015.8:g.87662830_87662832del	NCBI36
NG_008218.1:g.21205_21207del
NG_011736.1:g.79633_79635del , LRG_500:g.79633_79635del
NG_008218.2:g.21205_21207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3432_3434del	ENSP00000516154.1:p.Glu1144del
ENST00000268124.11:c.3432_3434del MANE Select	ENSP00000268124.5:p.Glu1144del
ENST00000530292.3:c.3033_3035del	ENSP00000432885.2:p.Glu1011del
ENST00000635986.2:c.*502_*504del	ENSP00000490653.2:n.*502_*504del
ENST00000636774.1:c.*1999_*2001del	ENSP00000489799.1:n.*1999_*2001del
ENST00000637238.1:c.2241_2243del	ENSP00000490756.1:n.2241_2243del
ENST00000637264.1:c.2504_2506del
ENST00000666746.1:c.3009_3011del
ENST00000672071.1:n.3630_3632del
ENST00000672695.1:n.609_611del
ENST00000672923.2:n.3432_3434del
ENST00000268124.9:c.3432_3434del	ENSP00000268124.5:p.Glu1144del
ENST00000442287.6:c.3432_3434del	ENSP00000399851.2:p.Glu1144del
ENST00000530292.2:c.516_518del	ENSP00000432885.1:p.Glu172del
ENST00000631044.2:c.*2856_*2858del	ENSP00000486730.1:n.*2856_*2858del
NM_001126131.1:c.3432_3434del	NP_001119603.1:p.Glu1144del
NM_002693.2:c.3432_3434del	NP_002684.1:p.Glu1144del
NM_001126131.2:c.3432_3434del	NP_001119603.1:p.Glu1144del
NM_002693.3:c.3432_3434del MANE Select	NP_002684.1:p.Glu1144del