Canonical Allele Identifier: CA1139664124

Gene: POLG

Linked Data

• ClinVar Variation Id: 946586
• ClinVar RCV Id: RCV001217482
• dbSNP Id: rs2055559226

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328943_89328944delinsAT , CM000677.2:g.89328943_89328944delinsAT	GRCh38
NC_000015.9:g.89872174_89872175delinsAT , CM000677.1:g.89872174_89872175delinsAT	GRCh37
NC_000015.8:g.87673178_87673179delinsAT	NCBI36
NG_008218.1:g.10852_10853delinsAT
NG_008218.2:g.10852_10853delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1022_1023delinsAT	ENSP00000516154.1:p.Ala341Asp
ENST00000268124.11:c.1022_1023delinsAT MANE Select	ENSP00000268124.5:p.Ala341Asp
ENST00000530292.3:c.623_624delinsAT	ENSP00000432885.2:p.Ala208Asp
ENST00000635986.2:c.1022_1023delinsAT	ENSP00000490653.2:p.Ala341Asp
ENST00000636774.1:c.1022_1023delinsAT	ENSP00000489799.1:p.Ala341Asp
ENST00000637264.1:c.94_95delinsAT
ENST00000666746.1:c.679_680delinsAT
ENST00000672071.1:n.1220_1221delinsAT
ENST00000672923.2:n.19_20delinsAT
ENST00000268124.9:c.1022_1023delinsAT	ENSP00000268124.5:p.Ala341Asp
ENST00000442287.6:c.1022_1023delinsAT	ENSP00000399851.2:p.Ala341Asp
ENST00000631044.2:c.*405_*406delinsAT	ENSP00000486730.1:n.*405_*406delinsAT
NM_001126131.1:c.1022_1023delinsAT	NP_001119603.1:p.Ala341Asp
NM_002693.2:c.1022_1023delinsAT	NP_002684.1:p.Ala341Asp
NM_001126131.2:c.1022_1023delinsAT	NP_001119603.1:p.Ala341Asp
NM_002693.3:c.1022_1023delinsAT MANE Select	NP_002684.1:p.Ala341Asp