Canonical Allele Identifier: CA7725192

Gene: POLG POLGARF

Linked Data

• dbSNP Id: rs1491445781
• ExAC: 15:89876851 CTG / C
• gnomAD v2: 15-89876851-CTG-C
• gnomAD v3: 15-89333620-CTG-C
• gnomAD v4: 15-89333620-CTG-C
• MyVariant Identifiers: chr15:g.89876852_89876853del (hg19) ; chr15:g.89333621_89333622del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333621_89333622del , CM000677.2:g.89333621_89333622del	GRCh38
NC_000015.9:g.89876852_89876853del , CM000677.1:g.89876852_89876853del	GRCh37
NC_000015.8:g.87677856_87677857del	NCBI36
NG_008218.1:g.6174_6175del
NG_008218.2:g.6174_6175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.133_134del (POLG)	ENSP00000516154.1:p.Gln45AlafsTer?
ENST00000706918.1:c.188_189del (POLGARF)	ENSP00000516626.1:p.Ala63GlyfsTer?
ENST00000268124.11:c.133_134del (POLG) MANE Select	ENSP00000268124.5:p.Gln45AlafsTer?
ENST00000635986.2:c.133_134del (POLG)	ENSP00000490653.2:p.Gln45AlafsTer?
ENST00000636774.1:c.133_134del (POLG)	ENSP00000489799.1:p.Gln45AlafsTer?
ENST00000650303.2:c.188_189del (POLG)	ENSP00000497242.2:p.Ala63GlyfsTer?
ENST00000672071.1:n.331_332del (POLG)
ENST00000268124.9:c.133_134del (POLG)	ENSP00000268124.5:p.Gln45AlafsTer?
ENST00000442287.6:c.133_134del (POLG)	ENSP00000399851.2:p.Gln45AlafsTer?
ENST00000631044.2:c.133_134del (POLG)	ENSP00000486730.1:p.Gln45AlafsTer?
NM_001126131.1:c.133_134del (POLG)	NP_001119603.1:p.Gln45AlafsTer?
NM_002693.2:c.133_134del (POLG)	NP_002684.1:p.Gln45AlafsTer?
NM_001126131.2:c.133_134del (POLG)	NP_001119603.1:p.Gln45AlafsTer?
NM_002693.3:c.133_134del (POLG) MANE Select	NP_002684.1:p.Gln45AlafsTer?