Canonical Allele Identifier: CA972589122

Gene: POLG

Linked Data

• gnomAD v3: 15-89325211-TGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGA-T
• gnomAD v4: 15-89325211-TGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325215_89325294del , CM000677.2:g.89325215_89325294del	GRCh38
NC_000015.9:g.89868446_89868525del , CM000677.1:g.89868446_89868525del	GRCh37
NC_000015.8:g.87669450_87669529del	NCBI36
NG_008218.1:g.14505_14584del
NG_008218.2:g.14505_14584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+159_1949+238del	ENSP00000516154.1:n.1949+159_1949+238del
ENST00000268124.11:c.1949+159_1949+238del MANE Select	ENSP00000268124.5:n.1949+159_1949+238del
ENST00000530292.3:c.1550+159_1550+238del	ENSP00000432885.2:n.1550+159_1550+238del
ENST00000635986.2:c.1949+159_1949+238del	ENSP00000490653.2:n.1949+159_1949+238del
ENST00000636774.1:c.*516+159_*516+238del	ENSP00000489799.1:n.*516+159_*516+238del
ENST00000637238.1:c.646+199_646+278del	ENSP00000490756.1:n.646+199_646+278del
ENST00000637264.1:c.1021+159_1021+238del
ENST00000666746.1:c.1526+159_1526+238del
ENST00000670281.1:c.269+159_269+238del	ENSP00000499709.1:n.269+159_269+238del
ENST00000672071.1:n.2147+159_2147+238del
ENST00000672923.2:n.2052+159_2052+238del
ENST00000268124.9:c.1949+159_1949+238del	ENSP00000268124.5:n.1949+159_1949+238del
ENST00000442287.6:c.1949+159_1949+238del	ENSP00000399851.2:n.1949+159_1949+238del
ENST00000526314.2:c.331+159_331+238del
ENST00000526398.1:c.138+159_138+238del
ENST00000526573.1:n.35+159_35+238del
ENST00000532584.5:n.151+159_151+238del
ENST00000631044.2:c.*1332+159_*1332+238del	ENSP00000486730.1:n.*1332+159_*1332+238del
NM_001126131.1:c.1949+159_1949+238del	NP_001119603.1:n.1949+159_1949+238del
NM_002693.2:c.1949+159_1949+238del	NP_002684.1:n.1949+159_1949+238del
NM_001126131.2:c.1949+159_1949+238del	NP_001119603.1:n.1949+159_1949+238del
NM_002693.3:c.1949+159_1949+238del MANE Select	NP_002684.1:n.1949+159_1949+238del