Canonical Allele Identifier: CA619857664

Gene: POLG

Linked Data

• dbSNP Id: rs1170930038
• gnomAD v2: 15-89872446-TCAAA-T
• gnomAD v4: 15-89329215-TCAAA-T
• MyVariant Identifiers: chr15:g.89872447_89872450del (hg19) ; chr15:g.89329216_89329219del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89329218_89329221del , CM000677.2:g.89329218_89329221del	GRCh38
NC_000015.9:g.89872449_89872452del , CM000677.1:g.89872449_89872452del	GRCh37
NC_000015.8:g.87673453_87673456del	NCBI36
NG_008218.1:g.10577_10580del
NG_008218.2:g.10577_10580del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.856-109_856-106del	ENSP00000516154.1:n.856-109_856-106del
ENST00000268124.11:c.856-109_856-106del MANE Select	ENSP00000268124.5:n.856-109_856-106del
ENST00000530292.3:c.457-109_457-106del	ENSP00000432885.2:n.457-109_457-106del
ENST00000635986.2:c.856-109_856-106del	ENSP00000490653.2:n.856-109_856-106del
ENST00000636774.1:c.856-109_856-106del	ENSP00000489799.1:n.856-109_856-106del
ENST00000666746.1:c.513-109_513-106del
ENST00000672071.1:n.1054-109_1054-106del
ENST00000268124.9:c.856-109_856-106del	ENSP00000268124.5:n.856-109_856-106del
ENST00000442287.6:c.856-109_856-106del	ENSP00000399851.2:n.856-109_856-106del
ENST00000631044.2:c.*239-109_*239-106del	ENSP00000486730.1:n.*239-109_*239-106del
NM_001126131.1:c.856-109_856-106del	NP_001119603.1:n.856-109_856-106del
NM_002693.2:c.856-109_856-106del	NP_002684.1:n.856-109_856-106del
NM_001126131.2:c.856-109_856-106del	NP_001119603.1:n.856-109_856-106del
NM_002693.3:c.856-109_856-106del MANE Select	NP_002684.1:n.856-109_856-106del