Canonical Allele Identifier: CA303074

Gene: POLG MIR6766

Linked Data

• ClinVar Variation Id: 199081
• ClinVar RCV Id: RCV000180588 ; RCV000466342
• dbSNP Id: rs2307434
• ExAC: 15:89869973 TG / T
• gnomAD v2: 15-89869973-TG-T
• gnomAD v3: 15-89326742-TG-T
• gnomAD v4: 15-89326742-TG-T
• MyVariant Identifiers: chr15:g.89869974del (hg19) ; chr15:g.89869974delG (hg19) ; chr15:g.89326743del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89326743del , CM000677.2:g.89326743del	GRCh38
NC_000015.9:g.89869974del , CM000677.1:g.89869974del	GRCh37
NC_000015.8:g.87670978del	NCBI36
NG_008218.1:g.13053del
NG_008218.2:g.13053del

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1586-5del (POLG)	ENSP00000516154.1:n.1586-5del
ENST00000268124.11:c.1586-5del (POLG) MANE Select	ENSP00000268124.5:n.1586-5del
ENST00000530292.3:c.1187-5del (POLG)	ENSP00000432885.2:n.1187-5del
ENST00000635986.2:c.1586-5del (POLG)	ENSP00000490653.2:n.1586-5del
ENST00000636774.1:c.*153-5del (POLG)	ENSP00000489799.1:n.*153-5del
ENST00000637238.1:c.323-5del (POLG)	ENSP00000490756.1:n.323-5del
ENST00000637264.1:c.658-5del (POLG)
ENST00000666746.1:c.1163-5del (POLG)
ENST00000672071.1:n.1784-5del (POLG)
ENST00000672923.2:n.1689-5del (POLG)
ENST00000268124.9:c.1586-5del (POLG)	ENSP00000268124.5:n.1586-5del
ENST00000442287.6:c.1586-5del (POLG)	ENSP00000399851.2:n.1586-5del
ENST00000631044.2:c.*969-5del (POLG)	ENSP00000486730.1:n.*969-5del
NM_001126131.1:c.1586-5del (POLG)	NP_001119603.1:n.1586-5del
NM_002693.2:c.1586-5del (POLG)	NP_002684.1:n.1586-5del
NR_106824.1:n.68del (MIR6766)
NM_001126131.2:c.1586-5del (POLG)	NP_001119603.1:n.1586-5del
NM_002693.3:c.1586-5del (POLG) MANE Select	NP_002684.1:n.1586-5del