Canonical Allele Identifier: CA7725020

Gene: POLG

Linked Data

• dbSNP Id: rs752196851
• ExAC: 15:89872388 CTGTGGGGCCAGCCCACCACTGCTTGGTGG / C
• gnomAD v2: 15-89872388-CTGTGGGGCCAGCCCACCACTGCTTGGTGG-C
• gnomAD v4: 15-89329157-CTGTGGGGCCAGCCCACCACTGCTTGGTGG-C
• MyVariant Identifiers: chr15:g.89872389_89872417del (hg19) ; chr15:g.89329158_89329186del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89329163_89329191del , CM000677.2:g.89329163_89329191del	GRCh38
NC_000015.9:g.89872394_89872422del , CM000677.1:g.89872394_89872422del	GRCh37
NC_000015.8:g.87673398_87673426del	NCBI36
NG_008218.1:g.10610_10638del
NG_008218.2:g.10610_10638del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.856-76_856-48del	ENSP00000516154.1:n.856-76_856-48del
ENST00000268124.11:c.856-76_856-48del MANE Select	ENSP00000268124.5:n.856-76_856-48del
ENST00000530292.3:c.457-76_457-48del	ENSP00000432885.2:n.457-76_457-48del
ENST00000635986.2:c.856-76_856-48del	ENSP00000490653.2:n.856-76_856-48del
ENST00000636774.1:c.856-76_856-48del	ENSP00000489799.1:n.856-76_856-48del
ENST00000666746.1:c.513-76_513-48del
ENST00000672071.1:n.1054-76_1054-48del
ENST00000268124.9:c.856-76_856-48del	ENSP00000268124.5:n.856-76_856-48del
ENST00000442287.6:c.856-76_856-48del	ENSP00000399851.2:n.856-76_856-48del
ENST00000631044.2:c.*239-76_*239-48del	ENSP00000486730.1:n.*239-76_*239-48del
NM_001126131.1:c.856-76_856-48del	NP_001119603.1:n.856-76_856-48del
NM_002693.2:c.856-76_856-48del	NP_002684.1:n.856-76_856-48del
NM_001126131.2:c.856-76_856-48del	NP_001119603.1:n.856-76_856-48del
NM_002693.3:c.856-76_856-48del MANE Select	NP_002684.1:n.856-76_856-48del