Canonical Allele Identifier: CA2842165365
Gene: COG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70483936dup , CM000678.2:g.70483936dup GRCh38
NC_000016.9:g.70517839dup , CM000678.1:g.70517839dup GRCh37
NC_000016.8:g.69075340dup NCBI36
NG_027529.1:g.44620dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000534772.2:c.*1821dup ENSP00000461912.2:n.*1821dup
ENST00000703106.1:c.1790dup ENSP00000515173.1:n.1790dup
ENST00000703107.1:c.*1674dup ENSP00000515174.1:n.*1674dup
ENST00000703108.1:c.*193dup ENSP00000515175.1:n.*193dup
ENST00000703109.1:c.1778dup ENSP00000515176.1:p.Gly594ArgfsTer9
ENST00000703110.1:c.*1247dup ENSP00000515177.1:n.*1247dup
ENST00000703111.1:n.1752dup
ENST00000703112.1:n.2518dup
ENST00000703113.1:c.*1158dup ENSP00000515178.1:n.*1158dup
ENST00000703114.1:c.*394dup ENSP00000515179.1:n.*394dup
ENST00000703115.1:c.858dup ENSP00000515180.1:n.858dup
ENST00000323786.10:c.1745dup MANE Select ENSP00000315775.5:p.Gly583ArgfsTer9
ENST00000564415.6:c.*1525dup ENSP00000456653.2:n.*1525dup
ENST00000674443.1:c.1670dup ENSP00000501405.1:p.Gly558ArgfsTer9
ENST00000323786.9:c.1745dup ENSP00000315775.5:p.Gly583ArgfsTer9
ENST00000393612.8:c.1682dup ENSP00000377236.5:p.Gly562ArgfsTer9
ENST00000482252.5:c.1892dup ENSP00000432802.1:n.1892dup
ENST00000526700.5:n.921dup
ENST00000530314.5:n.2424dup
ENST00000564315.1:n.205dup
ENST00000564415.5:c.*1525dup ENSP00000456653.1:n.*1525dup
NM_001195139.1:c.1682dup NP_001182068.1:p.Gly562ArgfsTer9
NM_015386.2:c.1745dup NP_056201.2:p.Gly583ArgfsTer9
XM_011522981.1:c.1319dup XP_011521283.1:p.Gly441ArgfsTer9
XR_933266.1:n.1691dup
XR_933267.1:n.1691dup
XM_011522981.3:c.1319dup XP_011521283.1:p.Gly441ArgfsTer9
XM_024450224.1:c.764dup XP_024305992.1:p.Gly256ArgfsTer9
XR_001751889.1:n.1628dup
XR_933266.2:n.1691dup
NM_015386.3:c.1745dup MANE Select NP_056201.2:p.Gly583ArgfsTer9
NM_001195139.2:c.1670dup NP_001182068.2:p.Gly558ArgfsTer9
NM_001365426.1:c.1319dup NP_001352355.1:p.Gly441ArgfsTer9
NR_158212.1:n.1704dup