Canonical Allele Identifier: CA2194551019

Gene: POLG

Linked Data

• dbSNP Id: rs2055508847
• gnomAD v4: 15-89325744-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325746del , CM000677.2:g.89325746del	GRCh38
NC_000015.9:g.89868977del , CM000677.1:g.89868977del	GRCh37
NC_000015.8:g.87669981del	NCBI36
NG_008218.1:g.14051del
NG_008218.2:g.14051del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1713-59del	ENSP00000516154.1:n.1713-59del
ENST00000268124.11:c.1713-59del MANE Select	ENSP00000268124.5:n.1713-59del
ENST00000530292.3:c.1314-59del	ENSP00000432885.2:n.1314-59del
ENST00000635986.2:c.1713-59del	ENSP00000490653.2:n.1713-59del
ENST00000636774.1:c.*280-59del	ENSP00000489799.1:n.*280-59del
ENST00000637238.1:c.450-59del	ENSP00000490756.1:n.450-59del
ENST00000637264.1:c.785-59del
ENST00000666746.1:c.1290-59del
ENST00000670281.1:c.33-59del	ENSP00000499709.1:n.33-59del
ENST00000672071.1:n.1911-59del
ENST00000672923.2:n.1816-59del
ENST00000268124.9:c.1713-59del	ENSP00000268124.5:n.1713-59del
ENST00000442287.6:c.1713-59del	ENSP00000399851.2:n.1713-59del
ENST00000526314.2:c.95-59del
ENST00000631044.2:c.*1096-59del	ENSP00000486730.1:n.*1096-59del
NM_001126131.1:c.1713-59del	NP_001119603.1:n.1713-59del
NM_002693.2:c.1713-59del	NP_002684.1:n.1713-59del
NM_001126131.2:c.1713-59del	NP_001119603.1:n.1713-59del
NM_002693.3:c.1713-59del MANE Select	NP_002684.1:n.1713-59del