Canonical Allele Identifier: CA2194564923

Gene: POLG

Linked Data

• dbSNP Id: rs2055573474
• gnomAD v4: 15-89330020-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330023_89330024del , CM000677.2:g.89330023_89330024del	GRCh38
NC_000015.9:g.89873254_89873255del , CM000677.1:g.89873254_89873255del	GRCh37
NC_000015.8:g.87674258_87674259del	NCBI36
NG_008218.1:g.9774_9775del
NG_008218.2:g.9774_9775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.855+59_855+60del	ENSP00000516154.1:n.855+59_855+60del
ENST00000268124.11:c.855+59_855+60del MANE Select	ENSP00000268124.5:n.855+59_855+60del
ENST00000530292.3:c.456+59_456+60del	ENSP00000432885.2:n.456+59_456+60del
ENST00000635986.2:c.855+59_855+60del	ENSP00000490653.2:n.855+59_855+60del
ENST00000636774.1:c.855+59_855+60del	ENSP00000489799.1:n.855+59_855+60del
ENST00000666746.1:c.512+59_512+60del
ENST00000672071.1:n.1053+59_1053+60del
ENST00000268124.9:c.855+59_855+60del	ENSP00000268124.5:n.855+59_855+60del
ENST00000442287.6:c.855+59_855+60del	ENSP00000399851.2:n.855+59_855+60del
ENST00000631044.2:c.*238+59_*238+60del	ENSP00000486730.1:n.*238+59_*238+60del
NM_001126131.1:c.855+59_855+60del	NP_001119603.1:n.855+59_855+60del
NM_002693.2:c.855+59_855+60del	NP_002684.1:n.855+59_855+60del
NM_001126131.2:c.855+59_855+60del	NP_001119603.1:n.855+59_855+60del
NM_002693.3:c.855+59_855+60del MANE Select	NP_002684.1:n.855+59_855+60del