Canonical Allele Identifier: CA8739940
Gene: COG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1957672
ClinVar RCV Id: RCV002690800 RCV002690801
dbSNP Id: rs749016283
ExAC: 17:71192661 CAGG / C
gnomAD v2: 17-71192661-CAGG-C
gnomAD v3: 17-73196522-CAGG-C
gnomAD v4: 17-73196522-CAGG-C
MyVariant Identifiers: chr17:g.71192662_71192664del (hg19) chr17:g.73196523_73196525del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196525_73196527del , CM000679.2:g.73196525_73196527del GRCh38
NC_000017.10:g.71192664_71192666del , CM000679.1:g.71192664_71192666del GRCh37
NC_000017.9:g.68704259_68704261del NCBI36
NG_008971.1:g.8492_8494del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.334_336del MANE Select ENSP00000299886.4:p.Glu112del
ENST00000299886.8:c.334_336del ENSP00000299886.4:p.Glu112del
ENST00000438720.7:c.332_334del
ENST00000582587.2:c.331_333del
ENST00000618996.4:c.334_336del ENSP00000479450.1:p.Glu112del
NM_018714.2:c.334_336del NP_061184.1:p.Glu112del
NM_018714.3:c.334_336del MANE Select NP_061184.1:p.Glu112del
Search 100 bp 5'
Search 100 bp 3'