Canonical Allele Identifier: CA972591940

Gene: POLG

Linked Data

• dbSNP Id: rs2055564624
• gnomAD v3: 15-89329257-TAC-T
• gnomAD v4: 15-89329257-TAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89329259_89329260del , CM000677.2:g.89329259_89329260del	GRCh38
NC_000015.9:g.89872490_89872491del , CM000677.1:g.89872490_89872491del	GRCh37
NC_000015.8:g.87673494_87673495del	NCBI36
NG_008218.1:g.10537_10538del
NG_008218.2:g.10537_10538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.856-149_856-148del	ENSP00000516154.1:n.856-149_856-148del
ENST00000268124.11:c.856-149_856-148del MANE Select	ENSP00000268124.5:n.856-149_856-148del
ENST00000530292.3:c.457-149_457-148del	ENSP00000432885.2:n.457-149_457-148del
ENST00000635986.2:c.856-149_856-148del	ENSP00000490653.2:n.856-149_856-148del
ENST00000636774.1:c.856-149_856-148del	ENSP00000489799.1:n.856-149_856-148del
ENST00000666746.1:c.513-149_513-148del
ENST00000672071.1:n.1054-149_1054-148del
ENST00000268124.9:c.856-149_856-148del	ENSP00000268124.5:n.856-149_856-148del
ENST00000442287.6:c.856-149_856-148del	ENSP00000399851.2:n.856-149_856-148del
ENST00000631044.2:c.*239-149_*239-148del	ENSP00000486730.1:n.*239-149_*239-148del
NM_001126131.1:c.856-149_856-148del	NP_001119603.1:n.856-149_856-148del
NM_002693.2:c.856-149_856-148del	NP_002684.1:n.856-149_856-148del
NM_001126131.2:c.856-149_856-148del	NP_001119603.1:n.856-149_856-148del
NM_002693.3:c.856-149_856-148del MANE Select	NP_002684.1:n.856-149_856-148del