Canonical Allele Identifier: CA623218237
Gene: COG4 HGNC NCBI

Linked Data

dbSNP Id: rs1285633136

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70483971_70483972insTGACTGCAGGGCGTTCTTCCAGCCCTGAGGCTTTCTGC , CM000678.2:g.70483971_70483972insTGACTGCAGGGCGTTCTTCCAGCCCTGAGGCTTTCTGC GRCh38
NC_000016.9:g.70517874_70517875insTGACTGCAGGGCGTTCTTCCAGCCCTGAGGCTTTCTGC , CM000678.1:g.70517874_70517875insTGACTGCAGGGCGTTCTTCCAGCCCTGAGGCTTTCTGC GRCh37
NC_000016.8:g.69075375_69075376insTGACTGCAGGGCGTTCTTCCAGCCCTGAGGCTTTCTGC NCBI36
NG_027529.1:g.44583_44584insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000534772.2:c.*1787-3_*1787-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA ENSP00000461912.2:n.*1787-3_*1787-2insGCAGAAAGCCTCAGGGCTGGAAG...
ENST00000703106.1:c.1753_1754insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA ENSP00000515173.1:p.Ter585CysextTer?
ENST00000703107.1:c.*1640-3_*1640-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA ENSP00000515174.1:n.*1640-3_*1640-2insGCAGAAAGCCTCAGGGCTGGAAG...
ENST00000703108.1:c.*159-3_*159-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA ENSP00000515175.1:n.*159-3_*159-2insGCAGAAAGCCTCAGGGCTGGAAGAA...
ENST00000703109.1:c.1744-3_1744-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA ENSP00000515176.1:n.1744-3_1744-2insGCAGAAAGCCTCAGGGCTGGAAGAA...
ENST00000703110.1:c.*1213-3_*1213-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA ENSP00000515177.1:n.*1213-3_*1213-2insGCAGAAAGCCTCAGGGCTGGAAG...
ENST00000703111.1:n.1718-3_1718-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA
ENST00000703112.1:n.2484-3_2484-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA
ENST00000703113.1:c.*1124-3_*1124-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA ENSP00000515178.1:n.*1124-3_*1124-2insGCAGAAAGCCTCAGGGCTGGAAG...
ENST00000703114.1:c.*360-3_*360-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA ENSP00000515179.1:n.*360-3_*360-2insGCAGAAAGCCTCAGGGCTGGAAGAA...
ENST00000703115.1:c.824-3_824-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA ENSP00000515180.1:n.824-3_824-2insGCAGAAAGCCTCAGGGCTGGAAGAACG...
ENST00000323786.10:c.1711-3_1711-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA MANE Select ENSP00000315775.5:n.1711-3_1711-2insGCAGAAAGCCTCAGGGCTGGAAGAA...
ENST00000564415.6:c.*1491-3_*1491-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA ENSP00000456653.2:n.*1491-3_*1491-2insGCAGAAAGCCTCAGGGCTGGAAG...
ENST00000674443.1:c.1636-3_1636-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA ENSP00000501405.1:n.1636-3_1636-2insGCAGAAAGCCTCAGGGCTGGAAGAA...
ENST00000323786.9:c.1711-3_1711-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA ENSP00000315775.5:n.1711-3_1711-2insGCAGAAAGCCTCAGGGCTGGAAGAA...
ENST00000393612.8:c.1648-3_1648-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA ENSP00000377236.5:n.1648-3_1648-2insGCAGAAAGCCTCAGGGCTGGAAGAA...
ENST00000482252.5:c.1858-3_1858-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA ENSP00000432802.1:n.1858-3_1858-2insGCAGAAAGCCTCAGGGCTGGAAGAA...
ENST00000526700.5:n.887-3_887-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA
ENST00000530314.5:n.2390-3_2390-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA
ENST00000564315.1:n.171-3_171-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA
ENST00000564415.5:c.*1491-3_*1491-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA ENSP00000456653.1:n.*1491-3_*1491-2insGCAGAAAGCCTCAGGGCTGGAAG...
NM_001195139.1:c.1648-3_1648-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA NP_001182068.1:n.1648-3_1648-2insGCAGAAAGCCTCAGGGCTGGAAGAACGC...
NM_015386.2:c.1711-3_1711-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA NP_056201.2:n.1711-3_1711-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCT...
XM_011522981.1:c.1285-3_1285-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA XP_011521283.1:n.1285-3_1285-2insGCAGAAAGCCTCAGGGCTGGAAGAACGC...
XR_933266.1:n.1657-3_1657-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA
XR_933267.1:n.1657-3_1657-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA
XM_011522981.3:c.1285-3_1285-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA XP_011521283.1:n.1285-3_1285-2insGCAGAAAGCCTCAGGGCTGGAAGAACGC...
XM_024450224.1:c.730-3_730-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA XP_024305992.1:n.730-3_730-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCC...
XR_001751889.1:n.1594-3_1594-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA
XR_933266.2:n.1657-3_1657-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA
NM_015386.3:c.1711-3_1711-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA MANE Select NP_056201.2:n.1711-3_1711-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCT...
NM_001195139.2:c.1636-3_1636-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA NP_001182068.2:n.1636-3_1636-2insGCAGAAAGCCTCAGGGCTGGAAGAACGC...
NM_001365426.1:c.1285-3_1285-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA NP_001352355.1:n.1285-3_1285-2insGCAGAAAGCCTCAGGGCTGGAAGAACGC...
NR_158212.1:n.1670-3_1670-2insGCAGAAAGCCTCAGGGCTGGAAGAACGCCCTGCAGTCA