Canonical Allele Identifier: CA2194554693

Gene: POLG

Linked Data

• dbSNP Id: rs2055424011

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323242_89323245del , CM000677.2:g.89323242_89323245del	GRCh38
NC_000015.9:g.89866473_89866476del , CM000677.1:g.89866473_89866476del	GRCh37
NC_000015.8:g.87667477_87667480del	NCBI36
NG_008218.1:g.16554_16557del
NG_008218.2:g.16554_16557del

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2265+162_2265+165del	ENSP00000516154.1:n.2265+162_2265+165del
ENST00000268124.11:c.2265+162_2265+165del MANE Select	ENSP00000268124.5:n.2265+162_2265+165del
ENST00000530292.3:c.1866+162_1866+165del	ENSP00000432885.2:n.1866+162_1866+165del
ENST00000635986.2:c.2265+162_2265+165del	ENSP00000490653.2:n.2265+162_2265+165del
ENST00000636774.1:c.*832+162_*832+165del	ENSP00000489799.1:n.*832+162_*832+165del
ENST00000637238.1:c.962+162_962+165del	ENSP00000490756.1:n.962+162_962+165del
ENST00000637264.1:c.1337+162_1337+165del
ENST00000666746.1:c.1842+162_1842+165del
ENST00000670281.1:c.585+162_585+165del	ENSP00000499709.1:n.585+162_585+165del
ENST00000672071.1:n.2463+162_2463+165del
ENST00000672923.2:n.2368+162_2368+165del
ENST00000268124.9:c.2265+162_2265+165del	ENSP00000268124.5:n.2265+162_2265+165del
ENST00000442287.6:c.2265+162_2265+165del	ENSP00000399851.2:n.2265+162_2265+165del
ENST00000526314.2:c.540-340_540-337del
ENST00000526398.1:c.414+162_414+165del
ENST00000528881.2:c.34+162_34+165del
ENST00000530715.5:c.24+162_24+165del	ENSP00000431395.1:n.24+162_24+165del
ENST00000532584.5:n.467+162_467+165del
ENST00000631044.2:c.*1689+162_*1689+165del	ENSP00000486730.1:n.*1689+162_*1689+165de...
NM_001126131.1:c.2265+162_2265+165del	NP_001119603.1:n.2265+162_2265+165del
NM_002693.2:c.2265+162_2265+165del	NP_002684.1:n.2265+162_2265+165del
NM_001126131.2:c.2265+162_2265+165del	NP_001119603.1:n.2265+162_2265+165del
NM_002693.3:c.2265+162_2265+165del MANE Select	NP_002684.1:n.2265+162_2265+165del