Canonical Allele Identifier: CA972588895

Gene: POLG

Linked Data

• gnomAD v3: 15-89325195-AGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGT-A
• gnomAD v4: 15-89325195-AGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325211_89325278del , CM000677.2:g.89325211_89325278del	GRCh38
NC_000015.9:g.89868442_89868509del , CM000677.1:g.89868442_89868509del	GRCh37
NC_000015.8:g.87669446_87669513del	NCBI36
NG_008218.1:g.14533_14600del
NG_008218.2:g.14533_14600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+187_1949+254del	ENSP00000516154.1:n.1949+187_1949+254del
ENST00000268124.11:c.1949+187_1949+254del MANE Select	ENSP00000268124.5:n.1949+187_1949+254del
ENST00000530292.3:c.1550+187_1550+254del	ENSP00000432885.2:n.1550+187_1550+254del
ENST00000635986.2:c.1949+187_1949+254del	ENSP00000490653.2:n.1949+187_1949+254del
ENST00000636774.1:c.*516+187_*516+254del	ENSP00000489799.1:n.*516+187_*516+254del
ENST00000637238.1:c.646+227_646+294del	ENSP00000490756.1:n.646+227_646+294del
ENST00000637264.1:c.1021+187_1021+254del
ENST00000666746.1:c.1526+187_1526+254del
ENST00000670281.1:c.269+187_269+254del	ENSP00000499709.1:n.269+187_269+254del
ENST00000672071.1:n.2147+187_2147+254del
ENST00000672923.2:n.2052+187_2052+254del
ENST00000268124.9:c.1949+187_1949+254del	ENSP00000268124.5:n.1949+187_1949+254del
ENST00000442287.6:c.1949+187_1949+254del	ENSP00000399851.2:n.1949+187_1949+254del
ENST00000526314.2:c.331+187_331+254del
ENST00000526398.1:c.138+187_138+254del
ENST00000526573.1:n.35+187_35+254del
ENST00000532584.5:n.151+187_151+254del
ENST00000631044.2:c.*1332+187_*1332+254del	ENSP00000486730.1:n.*1332+187_*1332+254del
NM_001126131.1:c.1949+187_1949+254del	NP_001119603.1:n.1949+187_1949+254del
NM_002693.2:c.1949+187_1949+254del	NP_002684.1:n.1949+187_1949+254del
NM_001126131.2:c.1949+187_1949+254del	NP_001119603.1:n.1949+187_1949+254del
NM_002693.3:c.1949+187_1949+254del MANE Select	NP_002684.1:n.1949+187_1949+254del