Canonical Allele Identifier: CA972590105

Gene: POLG

Linked Data

• dbSNP Id: rs2055499981
• gnomAD v3: 15-89325326-CCT-C
• gnomAD v4: 15-89325326-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325327_89325328del , CM000677.2:g.89325327_89325328del	GRCh38
NC_000015.9:g.89868558_89868559del , CM000677.1:g.89868558_89868559del	GRCh37
NC_000015.8:g.87669562_87669563del	NCBI36
NG_008218.1:g.14468_14469del
NG_008218.2:g.14468_14469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+122_1949+123del	ENSP00000516154.1:n.1949+122_1949+123del
ENST00000268124.11:c.1949+122_1949+123del MANE Select	ENSP00000268124.5:n.1949+122_1949+123del
ENST00000530292.3:c.1550+122_1550+123del	ENSP00000432885.2:n.1550+122_1550+123del
ENST00000635986.2:c.1949+122_1949+123del	ENSP00000490653.2:n.1949+122_1949+123del
ENST00000636774.1:c.*516+122_*516+123del	ENSP00000489799.1:n.*516+122_*516+123del
ENST00000637238.1:c.646+162_646+163del	ENSP00000490756.1:n.646+162_646+163del
ENST00000637264.1:c.1021+122_1021+123del
ENST00000666746.1:c.1526+122_1526+123del
ENST00000670281.1:c.269+122_269+123del	ENSP00000499709.1:n.269+122_269+123del
ENST00000672071.1:n.2147+122_2147+123del
ENST00000672923.2:n.2052+122_2052+123del
ENST00000268124.9:c.1949+122_1949+123del	ENSP00000268124.5:n.1949+122_1949+123del
ENST00000442287.6:c.1949+122_1949+123del	ENSP00000399851.2:n.1949+122_1949+123del
ENST00000526314.2:c.331+122_331+123del
ENST00000526398.1:c.138+122_138+123del
ENST00000526573.1:n.35+122_35+123del
ENST00000532584.5:n.151+122_151+123del
ENST00000631044.2:c.*1332+122_*1332+123del	ENSP00000486730.1:n.*1332+122_*1332+123del
NM_001126131.1:c.1949+122_1949+123del	NP_001119603.1:n.1949+122_1949+123del
NM_002693.2:c.1949+122_1949+123del	NP_002684.1:n.1949+122_1949+123del
NM_001126131.2:c.1949+122_1949+123del	NP_001119603.1:n.1949+122_1949+123del
NM_002693.3:c.1949+122_1949+123del MANE Select	NP_002684.1:n.1949+122_1949+123del