Canonical Allele Identifier: CA716885445

Gene: POLG

Linked Data

• dbSNP Id: rs1454273314
• gnomAD v3: 15-89321882-TCTTA-T
• gnomAD v4: 15-89321882-TCTTA-T
• MyVariant Identifiers: chr15:g.89865114_89865117del (hg19) ; chr15:g.89321883_89321886del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321883_89321886del , CM000677.2:g.89321883_89321886del	GRCh38
NC_000015.9:g.89865114_89865117del , CM000677.1:g.89865114_89865117del	GRCh37
NC_000015.8:g.87666118_87666121del	NCBI36
NG_008218.1:g.17910_17913del
NG_008218.2:g.17910_17913del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2481-33_2481-30del	ENSP00000516154.1:n.2481-33_2481-30del
ENST00000268124.11:c.2481-33_2481-30del MANE Select	ENSP00000268124.5:n.2481-33_2481-30del
ENST00000530292.3:c.2082-33_2082-30del	ENSP00000432885.2:n.2082-33_2082-30del
ENST00000635986.2:c.2481-33_2481-30del	ENSP00000490653.2:n.2481-33_2481-30del
ENST00000636774.1:c.*1048-33_*1048-30del	ENSP00000489799.1:n.*1048-33_*1048-30del
ENST00000637238.1:c.1178-33_1178-30del	ENSP00000490756.1:n.1178-33_1178-30del
ENST00000637264.1:c.1553-33_1553-30del
ENST00000666746.1:c.2058-33_2058-30del
ENST00000670281.1:c.800+76_800+79del	ENSP00000499709.1:n.800+76_800+79del
ENST00000672071.1:n.2679-33_2679-30del
ENST00000672923.2:n.2423-33_2423-30del
ENST00000268124.9:c.2481-33_2481-30del	ENSP00000268124.5:n.2481-33_2481-30del
ENST00000442287.6:c.2481-33_2481-30del	ENSP00000399851.2:n.2481-33_2481-30del
ENST00000528881.2:c.196-626_196-623del
ENST00000530715.5:c.185+856_185+859del	ENSP00000431395.1:n.185+856_185+859del
ENST00000532584.5:n.597_600del
ENST00000631044.2:c.*1905-33_*1905-30del	ENSP00000486730.1:n.*1905-33_*1905-30del
NM_001126131.1:c.2481-33_2481-30del	NP_001119603.1:n.2481-33_2481-30del
NM_002693.2:c.2481-33_2481-30del	NP_002684.1:n.2481-33_2481-30del
NM_001126131.2:c.2481-33_2481-30del	NP_001119603.1:n.2481-33_2481-30del
NM_002693.3:c.2481-33_2481-30del MANE Select	NP_002684.1:n.2481-33_2481-30del