Canonical Allele Identifier: CA274546929

Gene: POLG

Linked Data

• dbSNP Id: rs987785344
• gnomAD v2: 15-89864761-ACGGT-A
• gnomAD v3: 15-89321530-ACGGT-A
• gnomAD v4: 15-89321530-ACGGT-A
• MyVariant Identifiers: chr15:g.89864762_89864765del (hg19) ; chr15:g.89321531_89321534del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321532_89321535del , CM000677.2:g.89321532_89321535del	GRCh38
NC_000015.9:g.89864763_89864766del , CM000677.1:g.89864763_89864766del	GRCh37
NC_000015.8:g.87665767_87665770del	NCBI36
NG_008218.1:g.18262_18265del
NG_008218.2:g.18262_18265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2598+202_2598+205del	ENSP00000516154.1:n.2598+202_2598+205del
ENST00000268124.11:c.2598+202_2598+205del MANE Select	ENSP00000268124.5:n.2598+202_2598+205del
ENST00000530292.3:c.2199+202_2199+205del	ENSP00000432885.2:n.2199+202_2199+205del
ENST00000635986.2:c.2598+202_2598+205del	ENSP00000490653.2:n.2598+202_2598+205del
ENST00000636774.1:c.*1165+202_*1165+205del	ENSP00000489799.1:n.*1165+202_*1165+205del
ENST00000637238.1:c.1295+202_1295+205del	ENSP00000490756.1:n.1295+202_1295+205del
ENST00000637264.1:c.1670+202_1670+205del
ENST00000666746.1:c.2175+202_2175+205del
ENST00000670281.1:c.800+428_800+431del	ENSP00000499709.1:n.800+428_800+431del
ENST00000672071.1:n.2796+202_2796+205del
ENST00000672923.2:n.2540+202_2540+205del
ENST00000268124.9:c.2598+202_2598+205del	ENSP00000268124.5:n.2598+202_2598+205del
ENST00000442287.6:c.2598+202_2598+205del	ENSP00000399851.2:n.2598+202_2598+205del
ENST00000528881.2:c.196-274_196-271del
ENST00000530715.5:c.186-665_186-662del	ENSP00000431395.1:n.186-665_186-662del
ENST00000631044.2:c.*2022+202_*2022+205del	ENSP00000486730.1:n.*2022+202_*2022+205del
NM_001126131.1:c.2598+202_2598+205del	NP_001119603.1:n.2598+202_2598+205del
NM_002693.2:c.2598+202_2598+205del	NP_002684.1:n.2598+202_2598+205del
NM_001126131.2:c.2598+202_2598+205del	NP_001119603.1:n.2598+202_2598+205del
NM_002693.3:c.2598+202_2598+205del MANE Select	NP_002684.1:n.2598+202_2598+205del