Canonical Allele Identifier: CA492076999

Gene: POLG

Linked Data

• dbSNP Id: rs1170298448
• gnomAD v2: 15-89868502-TGA-T
• gnomAD v3: 15-89325271-TGA-T
• gnomAD v4: 15-89325271-TGA-T
• MyVariant Identifiers: chr15:g.89868503_89868504del (hg19) ; chr15:g.89868513_89868530delinsAAGAGAGAGAGAGAGG (hg19) ; chr15:g.89325272_89325273del (hg38) ; chr15:g.89325282_89325299delinsAAGAGAGAGAGAGAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325282_89325283del , CM000677.2:g.89325282_89325283del	GRCh38
NC_000015.9:g.89868513_89868514del , CM000677.1:g.89868513_89868514del	GRCh37
NC_000015.8:g.87669517_87669518del	NCBI36
NG_008218.1:g.14523_14524del
NG_008218.2:g.14523_14524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1949+177_1949+178del	ENSP00000516154.1:n.1949+177_1949+178del
ENST00000268124.11:c.1949+177_1949+178del MANE Select	ENSP00000268124.5:n.1949+177_1949+178del
ENST00000530292.3:c.1550+177_1550+178del	ENSP00000432885.2:n.1550+177_1550+178del
ENST00000635986.2:c.1949+177_1949+178del	ENSP00000490653.2:n.1949+177_1949+178del
ENST00000636774.1:c.*516+177_*516+178del	ENSP00000489799.1:n.*516+177_*516+178del
ENST00000637238.1:c.646+217_646+218del	ENSP00000490756.1:n.646+217_646+218del
ENST00000637264.1:c.1021+177_1021+178del
ENST00000666746.1:c.1526+177_1526+178del
ENST00000670281.1:c.269+177_269+178del	ENSP00000499709.1:n.269+177_269+178del
ENST00000672071.1:n.2147+177_2147+178del
ENST00000672923.2:n.2052+177_2052+178del
ENST00000268124.9:c.1949+177_1949+178del	ENSP00000268124.5:n.1949+177_1949+178del
ENST00000442287.6:c.1949+177_1949+178del	ENSP00000399851.2:n.1949+177_1949+178del
ENST00000526314.2:c.331+177_331+178del
ENST00000526398.1:c.138+177_138+178del
ENST00000526573.1:n.35+177_35+178del
ENST00000532584.5:n.151+177_151+178del
ENST00000631044.2:c.*1332+177_*1332+178del	ENSP00000486730.1:n.*1332+177_*1332+178del
NM_001126131.1:c.1949+177_1949+178del	NP_001119603.1:n.1949+177_1949+178del
NM_002693.2:c.1949+177_1949+178del	NP_002684.1:n.1949+177_1949+178del
NM_001126131.2:c.1949+177_1949+178del	NP_001119603.1:n.1949+177_1949+178del
NM_002693.3:c.1949+177_1949+178del MANE Select	NP_002684.1:n.1949+177_1949+178del