Canonical Allele Identifier: CA7725043

Gene: POLG

Linked Data

• dbSNP Id: rs770814602
• ExAC: 15:89873386 AGT / A
• MyVariant Identifiers: chr15:g.89873387_89873388del (hg19) ; chr15:g.89330156_89330157del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330156_89330157del , CM000677.2:g.89330156_89330157del	GRCh38
NC_000015.9:g.89873387_89873388del , CM000677.1:g.89873387_89873388del	GRCh37
NC_000015.8:g.87674391_87674392del	NCBI36
NG_008218.1:g.9639_9640del
NG_008218.2:g.9639_9640del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.779_780del	ENSP00000516154.1:p.Asp260ValfsTer14
ENST00000268124.11:c.779_780del MANE Select	ENSP00000268124.5:p.Asp260ValfsTer14
ENST00000530292.3:c.380_381del	ENSP00000432885.2:p.Asp127ValfsTer14
ENST00000635986.2:c.779_780del	ENSP00000490653.2:p.Asp260ValfsTer14
ENST00000636774.1:c.779_780del	ENSP00000489799.1:p.Asp260ValfsTer14
ENST00000666746.1:c.436_437del
ENST00000672071.1:n.977_978del
ENST00000268124.9:c.779_780del	ENSP00000268124.5:p.Asp260ValfsTer14
ENST00000442287.6:c.779_780del	ENSP00000399851.2:p.Asp260ValfsTer14
ENST00000631044.2:c.*162_*163del	ENSP00000486730.1:n.*162_*163del
NM_001126131.1:c.779_780del	NP_001119603.1:p.Asp260ValfsTer14
NM_002693.2:c.779_780del	NP_002684.1:p.Asp260ValfsTer14
NM_001126131.2:c.779_780del	NP_001119603.1:p.Asp260ValfsTer14
NM_002693.3:c.779_780del MANE Select	NP_002684.1:p.Asp260ValfsTer14