Canonical Allele Identifier: CA619514224

Gene: POLG

Linked Data

• dbSNP Id: rs1320235329
• gnomAD v2: 15-89868545-GTTAA-G
• gnomAD v3: 15-89325314-GTTAA-G
• gnomAD v4: 15-89325314-GTTAA-G
• MyVariant Identifiers: chr15:g.89868546_89868549del (hg19) ; chr15:g.89325315_89325318del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325317_89325320del , CM000677.2:g.89325317_89325320del	GRCh38
NC_000015.9:g.89868548_89868551del , CM000677.1:g.89868548_89868551del	GRCh37
NC_000015.8:g.87669552_87669555del	NCBI36
NG_008218.1:g.14478_14481del
NG_008218.2:g.14478_14481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+132_1949+135del	ENSP00000516154.1:n.1949+132_1949+135del
ENST00000268124.11:c.1949+132_1949+135del MANE Select	ENSP00000268124.5:n.1949+132_1949+135del
ENST00000530292.3:c.1550+132_1550+135del	ENSP00000432885.2:n.1550+132_1550+135del
ENST00000635986.2:c.1949+132_1949+135del	ENSP00000490653.2:n.1949+132_1949+135del
ENST00000636774.1:c.*516+132_*516+135del	ENSP00000489799.1:n.*516+132_*516+135del
ENST00000637238.1:c.646+172_646+175del	ENSP00000490756.1:n.646+172_646+175del
ENST00000637264.1:c.1021+132_1021+135del
ENST00000666746.1:c.1526+132_1526+135del
ENST00000670281.1:c.269+132_269+135del	ENSP00000499709.1:n.269+132_269+135del
ENST00000672071.1:n.2147+132_2147+135del
ENST00000672923.2:n.2052+132_2052+135del
ENST00000268124.9:c.1949+132_1949+135del	ENSP00000268124.5:n.1949+132_1949+135del
ENST00000442287.6:c.1949+132_1949+135del	ENSP00000399851.2:n.1949+132_1949+135del
ENST00000526314.2:c.331+132_331+135del
ENST00000526398.1:c.138+132_138+135del
ENST00000526573.1:n.35+132_35+135del
ENST00000532584.5:n.151+132_151+135del
ENST00000631044.2:c.*1332+132_*1332+135del	ENSP00000486730.1:n.*1332+132_*1332+135del
NM_001126131.1:c.1949+132_1949+135del	NP_001119603.1:n.1949+132_1949+135del
NM_002693.2:c.1949+132_1949+135del	NP_002684.1:n.1949+132_1949+135del
NM_001126131.2:c.1949+132_1949+135del	NP_001119603.1:n.1949+132_1949+135del
NM_002693.3:c.1949+132_1949+135del MANE Select	NP_002684.1:n.1949+132_1949+135del