Canonical Allele Identifier: CA274553790

Gene: POLG

Linked Data

• dbSNP Id: rs376496231
• gnomAD v2: 15-89868513-GAA-G
• gnomAD v3: 15-89325282-GAA-G
• gnomAD v4: 15-89325282-GAA-G
• MyVariant Identifiers: chr15:g.89868515_89868516del (hg19) ; chr15:g.89868514_89868515del (hg19) ; chr15:g.89325284_89325285del (hg38) ; chr15:g.89325283_89325284del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325284_89325285del , CM000677.2:g.89325284_89325285del	GRCh38
NC_000015.9:g.89868515_89868516del , CM000677.1:g.89868515_89868516del	GRCh37
NC_000015.8:g.87669519_87669520del	NCBI36
NG_008218.1:g.14512_14513del
NG_008218.2:g.14512_14513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+166_1949+167del	ENSP00000516154.1:n.1949+166_1949+167del
ENST00000268124.11:c.1949+166_1949+167del MANE Select	ENSP00000268124.5:n.1949+166_1949+167del
ENST00000530292.3:c.1550+166_1550+167del	ENSP00000432885.2:n.1550+166_1550+167del
ENST00000635986.2:c.1949+166_1949+167del	ENSP00000490653.2:n.1949+166_1949+167del
ENST00000636774.1:c.*516+166_*516+167del	ENSP00000489799.1:n.*516+166_*516+167del
ENST00000637238.1:c.646+206_646+207del	ENSP00000490756.1:n.646+206_646+207del
ENST00000637264.1:c.1021+166_1021+167del
ENST00000666746.1:c.1526+166_1526+167del
ENST00000670281.1:c.269+166_269+167del	ENSP00000499709.1:n.269+166_269+167del
ENST00000672071.1:n.2147+166_2147+167del
ENST00000672923.2:n.2052+166_2052+167del
ENST00000268124.9:c.1949+166_1949+167del	ENSP00000268124.5:n.1949+166_1949+167del
ENST00000442287.6:c.1949+166_1949+167del	ENSP00000399851.2:n.1949+166_1949+167del
ENST00000526314.2:c.331+166_331+167del
ENST00000526398.1:c.138+166_138+167del
ENST00000526573.1:n.35+166_35+167del
ENST00000532584.5:n.151+166_151+167del
ENST00000631044.2:c.*1332+166_*1332+167del	ENSP00000486730.1:n.*1332+166_*1332+167del
NM_001126131.1:c.1949+166_1949+167del	NP_001119603.1:n.1949+166_1949+167del
NM_002693.2:c.1949+166_1949+167del	NP_002684.1:n.1949+166_1949+167del
NM_001126131.2:c.1949+166_1949+167del	NP_001119603.1:n.1949+166_1949+167del
NM_002693.3:c.1949+166_1949+167del MANE Select	NP_002684.1:n.1949+166_1949+167del