Canonical Allele Identifier: CA2580090384

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 2132012
• ClinVar RCV Id: RCV003055926

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333234_89333245del , CM000677.2:g.89333234_89333245del	GRCh38
NC_000015.9:g.89876465_89876476del , CM000677.1:g.89876465_89876476del	GRCh37
NC_000015.8:g.87677469_87677480del	NCBI36
NG_008218.1:g.6555_6566del
NG_008218.2:g.6555_6566del

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.514_525del (POLG)	ENSP00000516154.1:p.Ala172_Trp175del
ENST00000706918.1:c.569_580del (POLGARF)	ENSP00000516626.1:p.Gly190_Leu193del
ENST00000268124.11:c.514_525del (POLG) MANE Select	ENSP00000268124.5:p.Ala172_Trp175del
ENST00000530292.3:c.115_126del (POLG)	ENSP00000432885.2:p.Ala39_Trp42del
ENST00000635986.2:c.514_525del (POLG)	ENSP00000490653.2:p.Ala172_Trp175del
ENST00000636774.1:c.514_525del (POLG)	ENSP00000489799.1:p.Ala172_Trp175del
ENST00000650303.2:c.569_580del (POLG)	ENSP00000497242.2:p.Gly190_Leu193del
ENST00000666746.1:c.171_182del (POLG)
ENST00000672071.1:n.712_723del (POLG)
ENST00000268124.9:c.514_525del (POLG)	ENSP00000268124.5:p.Ala172_Trp175del
ENST00000442287.6:c.514_525del (POLG)	ENSP00000399851.2:p.Ala172_Trp175del
ENST00000631044.2:c.514_525del (POLG)	ENSP00000486730.1:p.Ala172_Trp175del
NM_001126131.1:c.514_525del (POLG)	NP_001119603.1:p.Ala172_Trp175del
NM_002693.2:c.514_525del (POLG)	NP_002684.1:p.Ala172_Trp175del
NM_001126131.2:c.514_525del (POLG)	NP_001119603.1:p.Ala172_Trp175del
NM_002693.3:c.514_525del (POLG) MANE Select	NP_002684.1:p.Ala172_Trp175del