Canonical Allele Identifier: CA7724454

Gene: POLG

Linked Data

• dbSNP Id: rs747782863
• ExAC: 15:89865116 TAGC / T
• gnomAD v2: 15-89865116-TAGC-T
• gnomAD v4: 15-89321885-TAGC-T
• MyVariant Identifiers: chr15:g.89865117_89865119del (hg19) ; chr15:g.89321886_89321888del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321888_89321890del , CM000677.2:g.89321888_89321890del	GRCh38
NC_000015.9:g.89865119_89865121del , CM000677.1:g.89865119_89865121del	GRCh37
NC_000015.8:g.87666123_87666125del	NCBI36
NG_008218.1:g.17908_17910del
NG_008218.2:g.17908_17910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2481-35_2481-33del	ENSP00000516154.1:n.2481-35_2481-33del
ENST00000268124.11:c.2481-35_2481-33del MANE Select	ENSP00000268124.5:n.2481-35_2481-33del
ENST00000530292.3:c.2082-35_2082-33del	ENSP00000432885.2:n.2082-35_2082-33del
ENST00000635986.2:c.2481-35_2481-33del	ENSP00000490653.2:n.2481-35_2481-33del
ENST00000636774.1:c.*1048-35_*1048-33del	ENSP00000489799.1:n.*1048-35_*1048-33del
ENST00000637238.1:c.1178-35_1178-33del	ENSP00000490756.1:n.1178-35_1178-33del
ENST00000637264.1:c.1553-35_1553-33del
ENST00000666746.1:c.2058-35_2058-33del
ENST00000670281.1:c.800+74_800+76del	ENSP00000499709.1:n.800+74_800+76del
ENST00000672071.1:n.2679-35_2679-33del
ENST00000672923.2:n.2423-35_2423-33del
ENST00000268124.9:c.2481-35_2481-33del	ENSP00000268124.5:n.2481-35_2481-33del
ENST00000442287.6:c.2481-35_2481-33del	ENSP00000399851.2:n.2481-35_2481-33del
ENST00000528881.2:c.196-628_196-626del
ENST00000530715.5:c.185+854_185+856del	ENSP00000431395.1:n.185+854_185+856del
ENST00000532584.5:n.595_597del
ENST00000631044.2:c.*1905-35_*1905-33del	ENSP00000486730.1:n.*1905-35_*1905-33del
NM_001126131.1:c.2481-35_2481-33del	NP_001119603.1:n.2481-35_2481-33del
NM_002693.2:c.2481-35_2481-33del	NP_002684.1:n.2481-35_2481-33del
NM_001126131.2:c.2481-35_2481-33del	NP_001119603.1:n.2481-35_2481-33del
NM_002693.3:c.2481-35_2481-33del MANE Select	NP_002684.1:n.2481-35_2481-33del