Canonical Allele Identifier: CA274547095

Gene: POLG

Linked Data

• dbSNP Id: rs892229225
• gnomAD v2: 15-89864926-GGA-G
• gnomAD v3: 15-89321695-GGA-G
• gnomAD v4: 15-89321695-GGA-G
• MyVariant Identifiers: chr15:g.89864927_89864928del (hg19) ; chr15:g.89321696_89321697del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321699_89321700del , CM000677.2:g.89321699_89321700del	GRCh38
NC_000015.9:g.89864930_89864931del , CM000677.1:g.89864930_89864931del	GRCh37
NC_000015.8:g.87665934_87665935del	NCBI36
NG_008218.1:g.18099_18100del
NG_008218.2:g.18099_18100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2598+39_2598+40del	ENSP00000516154.1:n.2598+39_2598+40del
ENST00000268124.11:c.2598+39_2598+40del MANE Select	ENSP00000268124.5:n.2598+39_2598+40del
ENST00000530292.3:c.2199+39_2199+40del	ENSP00000432885.2:n.2199+39_2199+40del
ENST00000635986.2:c.2598+39_2598+40del	ENSP00000490653.2:n.2598+39_2598+40del
ENST00000636774.1:c.*1165+39_*1165+40del	ENSP00000489799.1:n.*1165+39_*1165+40del
ENST00000637238.1:c.1295+39_1295+40del	ENSP00000490756.1:n.1295+39_1295+40del
ENST00000637264.1:c.1670+39_1670+40del
ENST00000666746.1:c.2175+39_2175+40del
ENST00000670281.1:c.800+265_800+266del	ENSP00000499709.1:n.800+265_800+266del
ENST00000672071.1:n.2796+39_2796+40del
ENST00000672923.2:n.2540+39_2540+40del
ENST00000268124.9:c.2598+39_2598+40del	ENSP00000268124.5:n.2598+39_2598+40del
ENST00000442287.6:c.2598+39_2598+40del	ENSP00000399851.2:n.2598+39_2598+40del
ENST00000528881.2:c.196-437_196-436del
ENST00000530715.5:c.186-828_186-827del	ENSP00000431395.1:n.186-828_186-827del
ENST00000631044.2:c.*2022+39_*2022+40del	ENSP00000486730.1:n.*2022+39_*2022+40del
NM_001126131.1:c.2598+39_2598+40del	NP_001119603.1:n.2598+39_2598+40del
NM_002693.2:c.2598+39_2598+40del	NP_002684.1:n.2598+39_2598+40del
NM_001126131.2:c.2598+39_2598+40del	NP_001119603.1:n.2598+39_2598+40del
NM_002693.3:c.2598+39_2598+40del MANE Select	NP_002684.1:n.2598+39_2598+40del