Canonical Allele Identifier: CA619514105

Gene: POLG

Linked Data

• dbSNP Id: rs1400355912
• gnomAD v2: 15-89868498-TGAGTGAGA-T
• gnomAD v3: 15-89325267-TGAGTGAGA-T
• gnomAD v4: 15-89325267-TGAGTGAGA-T
• MyVariant Identifiers: chr15:g.89868499_89868506del (hg19) ; chr15:g.89868502_89868530delinsAGAGAAAGAGAGAGAGAGAGG (hg19) ; chr15:g.89325268_89325275del (hg38) ; chr15:g.89325271_89325299delinsAGAGAAAGAGAGAGAGAGAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325271_89325278del , CM000677.2:g.89325271_89325278del	GRCh38
NC_000015.9:g.89868502_89868509del , CM000677.1:g.89868502_89868509del	GRCh37
NC_000015.8:g.87669506_87669513del	NCBI36
NG_008218.1:g.14521_14528del
NG_008218.2:g.14521_14528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+175_1949+182del	ENSP00000516154.1:n.1949+175_1949+182del
ENST00000268124.11:c.1949+175_1949+182del MANE Select	ENSP00000268124.5:n.1949+175_1949+182del
ENST00000530292.3:c.1550+175_1550+182del	ENSP00000432885.2:n.1550+175_1550+182del
ENST00000635986.2:c.1949+175_1949+182del	ENSP00000490653.2:n.1949+175_1949+182del
ENST00000636774.1:c.*516+175_*516+182del	ENSP00000489799.1:n.*516+175_*516+182del
ENST00000637238.1:c.646+215_646+222del	ENSP00000490756.1:n.646+215_646+222del
ENST00000637264.1:c.1021+175_1021+182del
ENST00000666746.1:c.1526+175_1526+182del
ENST00000670281.1:c.269+175_269+182del	ENSP00000499709.1:n.269+175_269+182del
ENST00000672071.1:n.2147+175_2147+182del
ENST00000672923.2:n.2052+175_2052+182del
ENST00000268124.9:c.1949+175_1949+182del	ENSP00000268124.5:n.1949+175_1949+182del
ENST00000442287.6:c.1949+175_1949+182del	ENSP00000399851.2:n.1949+175_1949+182del
ENST00000526314.2:c.331+175_331+182del
ENST00000526398.1:c.138+175_138+182del
ENST00000526573.1:n.35+175_35+182del
ENST00000532584.5:n.151+175_151+182del
ENST00000631044.2:c.*1332+175_*1332+182del	ENSP00000486730.1:n.*1332+175_*1332+182del
NM_001126131.1:c.1949+175_1949+182del	NP_001119603.1:n.1949+175_1949+182del
NM_002693.2:c.1949+175_1949+182del	NP_002684.1:n.1949+175_1949+182del
NM_001126131.2:c.1949+175_1949+182del	NP_001119603.1:n.1949+175_1949+182del
NM_002693.3:c.1949+175_1949+182del MANE Select	NP_002684.1:n.1949+175_1949+182del