Canonical Allele Identifier: CA716887003

Gene: POLG

Linked Data

• dbSNP Id: rs1243569929
• gnomAD v3: 15-89323331-ACT-A
• gnomAD v4: 15-89323331-ACT-A
• MyVariant Identifiers: chr15:g.89866563_89866564del (hg19) ; chr15:g.89323332_89323333del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323334_89323335del , CM000677.2:g.89323334_89323335del	GRCh38
NC_000015.9:g.89866565_89866566del , CM000677.1:g.89866565_89866566del	GRCh37
NC_000015.8:g.87667569_87667570del	NCBI36
NG_008218.1:g.16463_16464del
NG_008218.2:g.16463_16464del

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2265+71_2265+72del	ENSP00000516154.1:n.2265+71_2265+72del
ENST00000268124.11:c.2265+71_2265+72del MANE Select	ENSP00000268124.5:n.2265+71_2265+72del
ENST00000530292.3:c.1866+71_1866+72del	ENSP00000432885.2:n.1866+71_1866+72del
ENST00000635986.2:c.2265+71_2265+72del	ENSP00000490653.2:n.2265+71_2265+72del
ENST00000636774.1:c.*832+71_*832+72del	ENSP00000489799.1:n.*832+71_*832+72del
ENST00000637238.1:c.962+71_962+72del	ENSP00000490756.1:n.962+71_962+72del
ENST00000637264.1:c.1337+71_1337+72del
ENST00000666746.1:c.1842+71_1842+72del
ENST00000670281.1:c.585+71_585+72del	ENSP00000499709.1:n.585+71_585+72del
ENST00000672071.1:n.2463+71_2463+72del
ENST00000672923.2:n.2368+71_2368+72del
ENST00000268124.9:c.2265+71_2265+72del	ENSP00000268124.5:n.2265+71_2265+72del
ENST00000442287.6:c.2265+71_2265+72del	ENSP00000399851.2:n.2265+71_2265+72del
ENST00000526314.2:c.540-431_540-430del
ENST00000526398.1:c.414+71_414+72del
ENST00000528881.2:c.34+71_34+72del
ENST00000530715.5:c.24+71_24+72del	ENSP00000431395.1:n.24+71_24+72del
ENST00000532584.5:n.467+71_467+72del
ENST00000631044.2:c.*1689+71_*1689+72del	ENSP00000486730.1:n.*1689+71_*1689+72del
NM_001126131.1:c.2265+71_2265+72del	NP_001119603.1:n.2265+71_2265+72del
NM_002693.2:c.2265+71_2265+72del	NP_002684.1:n.2265+71_2265+72del
NM_001126131.2:c.2265+71_2265+72del	NP_001119603.1:n.2265+71_2265+72del
NM_002693.3:c.2265+71_2265+72del MANE Select	NP_002684.1:n.2265+71_2265+72del