Canonical Allele Identifier: CA972589655

Gene: POLG

Linked Data

• gnomAD v3: 15-89325253-AGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGT-A
• gnomAD v4: 15-89325253-AGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325255_89325314del , CM000677.2:g.89325255_89325314del	GRCh38
NC_000015.9:g.89868486_89868545del , CM000677.1:g.89868486_89868545del	GRCh37
NC_000015.8:g.87669490_87669549del	NCBI36
NG_008218.1:g.14483_14542del
NG_008218.2:g.14483_14542del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+137_1949+196del	ENSP00000516154.1:n.1949+137_1949+196del
ENST00000268124.11:c.1949+137_1949+196del MANE Select	ENSP00000268124.5:n.1949+137_1949+196del
ENST00000530292.3:c.1550+137_1550+196del	ENSP00000432885.2:n.1550+137_1550+196del
ENST00000635986.2:c.1949+137_1949+196del	ENSP00000490653.2:n.1949+137_1949+196del
ENST00000636774.1:c.*516+137_*516+196del	ENSP00000489799.1:n.*516+137_*516+196del
ENST00000637238.1:c.646+177_646+236del	ENSP00000490756.1:n.646+177_646+236del
ENST00000637264.1:c.1021+137_1021+196del
ENST00000666746.1:c.1526+137_1526+196del
ENST00000670281.1:c.269+137_269+196del	ENSP00000499709.1:n.269+137_269+196del
ENST00000672071.1:n.2147+137_2147+196del
ENST00000672923.2:n.2052+137_2052+196del
ENST00000268124.9:c.1949+137_1949+196del	ENSP00000268124.5:n.1949+137_1949+196del
ENST00000442287.6:c.1949+137_1949+196del	ENSP00000399851.2:n.1949+137_1949+196del
ENST00000526314.2:c.331+137_331+196del
ENST00000526398.1:c.138+137_138+196del
ENST00000526573.1:n.35+137_35+196del
ENST00000532584.5:n.151+137_151+196del
ENST00000631044.2:c.*1332+137_*1332+196del	ENSP00000486730.1:n.*1332+137_*1332+196del
NM_001126131.1:c.1949+137_1949+196del	NP_001119603.1:n.1949+137_1949+196del
NM_002693.2:c.1949+137_1949+196del	NP_002684.1:n.1949+137_1949+196del
NM_001126131.2:c.1949+137_1949+196del	NP_001119603.1:n.1949+137_1949+196del
NM_002693.3:c.1949+137_1949+196del MANE Select	NP_002684.1:n.1949+137_1949+196del