Canonical Allele Identifier: CA2630256976

Gene: POLG POLGARF

Linked Data

• gnomAD v4: 15-89333624-TGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333625_89333626del , CM000677.2:g.89333625_89333626del	GRCh38
NC_000015.9:g.89876856_89876857del , CM000677.1:g.89876856_89876857del	GRCh37
NC_000015.8:g.87677860_87677861del	NCBI36
NG_008218.1:g.6170_6171del
NG_008218.2:g.6170_6171del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.129_130del (POLG)	ENSP00000516154.1:p.Gln44AlafsTer?
ENST00000706918.1:c.184_185del (POLGARF)	ENSP00000516626.1:p.Ala62SerfsTer?
ENST00000268124.11:c.129_130del (POLG) MANE Select	ENSP00000268124.5:p.Gln44AlafsTer?
ENST00000635986.2:c.129_130del (POLG)	ENSP00000490653.2:p.Gln44AlafsTer?
ENST00000636774.1:c.129_130del (POLG)	ENSP00000489799.1:p.Gln44AlafsTer?
ENST00000650303.2:c.184_185del (POLG)	ENSP00000497242.2:p.Ala62SerfsTer?
ENST00000672071.1:n.327_328del (POLG)
ENST00000268124.9:c.129_130del (POLG)	ENSP00000268124.5:p.Gln44AlafsTer?
ENST00000442287.6:c.129_130del (POLG)	ENSP00000399851.2:p.Gln44AlafsTer?
ENST00000631044.2:c.129_130del (POLG)	ENSP00000486730.1:p.Gln44AlafsTer?
NM_001126131.1:c.129_130del (POLG)	NP_001119603.1:p.Gln44AlafsTer?
NM_002693.2:c.129_130del (POLG)	NP_002684.1:p.Gln44AlafsTer?
NM_001126131.2:c.129_130del (POLG)	NP_001119603.1:p.Gln44AlafsTer?
NM_002693.3:c.129_130del (POLG) MANE Select	NP_002684.1:p.Gln44AlafsTer?