Canonical Allele Identifier: CA16620266
Gene: COG4 HGNC NCBI

Linked Data

ClinVar Variation Id: 419327
ClinVar RCV Id: RCV000479342
dbSNP Id: rs1064793795

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70483873del , CM000678.2:g.70483873del GRCh38
NC_000016.9:g.70517776del , CM000678.1:g.70517776del GRCh37
NC_000016.8:g.69075277del NCBI36
NG_027529.1:g.44684del

Transcript Alleles

HGVS Amino-acid change
ENST00000534772.2:c.*1885del ENSP00000461912.2:n.*1885del
ENST00000703106.1:c.1854del ENSP00000515173.1:n.1854del
ENST00000703107.1:c.*1738del ENSP00000515174.1:n.*1738del
ENST00000703108.1:c.*257del ENSP00000515175.1:n.*257del
ENST00000703109.1:c.1842del ENSP00000515176.1:p.Lys614AsnfsTer10
ENST00000703110.1:c.*1311del ENSP00000515177.1:n.*1311del
ENST00000703111.1:n.1816del
ENST00000703112.1:n.2582del
ENST00000703113.1:c.*1222del ENSP00000515178.1:n.*1222del
ENST00000703114.1:c.*458del ENSP00000515179.1:n.*458del
ENST00000703115.1:c.922del ENSP00000515180.1:n.922del
ENST00000323786.10:c.1809del MANE Select ENSP00000315775.5:p.Lys603AsnfsTer10
ENST00000564415.6:c.*1589del ENSP00000456653.2:n.*1589del
ENST00000674443.1:c.1734del ENSP00000501405.1:p.Lys578AsnfsTer10
ENST00000323786.9:c.1809del ENSP00000315775.5:p.Lys603AsnfsTer10
ENST00000393612.8:c.1746del ENSP00000377236.5:p.Lys582AsnfsTer10
ENST00000482252.5:c.1956del ENSP00000432802.1:n.1956del
ENST00000526700.5:n.985del
ENST00000530314.5:n.2488del
ENST00000564315.1:n.269del
ENST00000564415.5:c.*1589del ENSP00000456653.1:n.*1589del
NM_001195139.1:c.1746del NP_001182068.1:p.Lys582AsnfsTer10
NM_015386.2:c.1809del NP_056201.2:p.Lys603AsnfsTer10
XM_011522981.1:c.1383del XP_011521283.1:p.Lys461AsnfsTer10
XR_933266.1:n.1755del
XR_933267.1:n.1755del
XM_011522981.3:c.1383del XP_011521283.1:p.Lys461AsnfsTer10
XM_024450224.1:c.828del XP_024305992.1:p.Lys276AsnfsTer10
XR_001751889.1:n.1692del
XR_933266.2:n.1755del
NM_015386.3:c.1809del MANE Select NP_056201.2:p.Lys603AsnfsTer10
NM_001195139.2:c.1734del NP_001182068.2:p.Lys578AsnfsTer10
NM_001365426.1:c.1383del NP_001352355.1:p.Lys461AsnfsTer10
NR_158212.1:n.1768del