Canonical Allele Identifier: CA619857435

Gene: POLG

Linked Data

• ClinVar Variation Id: 1458421
• ClinVar RCV Id: RCV001956362
• dbSNP Id: rs1253517114
• gnomAD v2: 15-89870149-GATCC-G
• gnomAD v3: 15-89326918-GATCC-G
• gnomAD v4: 15-89326918-GATCC-G
• MyVariant Identifiers: chr15:g.89870150_89870153del (hg19) ; chr15:g.89326919_89326922del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89326921_89326924del , CM000677.2:g.89326921_89326924del	GRCh38
NC_000015.9:g.89870152_89870155del , CM000677.1:g.89870152_89870155del	GRCh37
NC_000015.8:g.87671156_87671159del	NCBI36
NG_008218.1:g.12874_12877del
NG_008218.2:g.12874_12877del

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1575_1578del	ENSP00000516154.1:p.Met525IlefsTer27
ENST00000268124.11:c.1575_1578del MANE Select	ENSP00000268124.5:p.Met525IlefsTer27
ENST00000530292.3:c.1176_1179del	ENSP00000432885.2:p.Met392IlefsTer27
ENST00000635986.2:c.1575_1578del	ENSP00000490653.2:p.Met525IlefsTer27
ENST00000636774.1:c.*142_*145del	ENSP00000489799.1:n.*142_*145del
ENST00000637238.1:c.312_315del	ENSP00000490756.1:p.Met104IlefsTer27
ENST00000637264.1:c.647_650del
ENST00000666746.1:c.1152_1155del
ENST00000672071.1:n.1773_1776del
ENST00000672923.2:n.1678_1681del
ENST00000268124.9:c.1575_1578del	ENSP00000268124.5:p.Met525IlefsTer27
ENST00000442287.6:c.1575_1578del	ENSP00000399851.2:p.Met525IlefsTer27
ENST00000631044.2:c.*958_*961del	ENSP00000486730.1:n.*958_*961del
NM_001126131.1:c.1575_1578del	NP_001119603.1:p.Met525IlefsTer27
NM_002693.2:c.1575_1578del	NP_002684.1:p.Met525IlefsTer27
NM_001126131.2:c.1575_1578del	NP_001119603.1:p.Met525IlefsTer27
NM_002693.3:c.1575_1578del MANE Select	NP_002684.1:p.Met525IlefsTer27