Canonical Allele Identifier: CA2576047432
Gene: COG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70483838_70483848dup , CM000678.2:g.70483838_70483848dup GRCh38
NC_000016.9:g.70517741_70517751dup , CM000678.1:g.70517741_70517751dup GRCh37
NC_000016.8:g.69075242_69075252dup NCBI36
NG_027529.1:g.44707_44717dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000534772.2:c.*1903+5_*1903+15dup ENSP00000461912.2:n.*1903+5_*1903+15dup
ENST00000703106.1:c.1872+5_1872+15dup ENSP00000515173.1:n.1872+5_1872+15dup
ENST00000703107.1:c.*1756+5_*1756+15dup ENSP00000515174.1:n.*1756+5_*1756+15dup
ENST00000703108.1:c.*275+5_*275+15dup ENSP00000515175.1:n.*275+5_*275+15dup
ENST00000703109.1:c.1860+5_1860+15dup ENSP00000515176.1:n.1860+5_1860+15dup
ENST00000703110.1:c.*1329+5_*1329+15dup ENSP00000515177.1:n.*1329+5_*1329+15dup
ENST00000703111.1:n.1834+5_1834+15dup
ENST00000703112.1:n.2600+5_2600+15dup
ENST00000703113.1:c.*1240+5_*1240+15dup ENSP00000515178.1:n.*1240+5_*1240+15dup
ENST00000703114.1:c.*476+5_*476+15dup ENSP00000515179.1:n.*476+5_*476+15dup
ENST00000703115.1:c.940+5_940+15dup ENSP00000515180.1:n.940+5_940+15dup
ENST00000323786.10:c.1827+5_1827+15dup MANE Select ENSP00000315775.5:n.1827+5_1827+15dup
ENST00000564415.6:c.*1607+5_*1607+15dup ENSP00000456653.2:n.*1607+5_*1607+15dup
ENST00000674443.1:c.1752+5_1752+15dup ENSP00000501405.1:n.1752+5_1752+15dup
ENST00000323786.9:c.1827+5_1827+15dup ENSP00000315775.5:n.1827+5_1827+15dup
ENST00000393612.8:c.1764+5_1764+15dup ENSP00000377236.5:n.1764+5_1764+15dup
ENST00000482252.5:c.1974+5_1974+15dup ENSP00000432802.1:n.1974+5_1974+15dup
ENST00000526700.5:n.1003+5_1003+15dup
ENST00000530314.5:n.2506+5_2506+15dup
ENST00000564315.1:n.287+5_287+15dup
ENST00000564415.5:c.*1607+5_*1607+15dup ENSP00000456653.1:n.*1607+5_*1607+15dup
NM_001195139.1:c.1764+5_1764+15dup NP_001182068.1:n.1764+5_1764+15dup
NM_015386.2:c.1827+5_1827+15dup NP_056201.2:n.1827+5_1827+15dup
XM_011522981.1:c.1401+5_1401+15dup XP_011521283.1:n.1401+5_1401+15dup
XR_933266.1:n.1773+5_1773+15dup
XR_933267.1:n.1773+5_1773+15dup
XM_011522981.3:c.1401+5_1401+15dup XP_011521283.1:n.1401+5_1401+15dup
XM_024450224.1:c.846+5_846+15dup XP_024305992.1:n.846+5_846+15dup
XR_001751889.1:n.1710+5_1710+15dup
XR_933266.2:n.1773+5_1773+15dup
NM_015386.3:c.1827+5_1827+15dup MANE Select NP_056201.2:n.1827+5_1827+15dup
NM_001195139.2:c.1752+5_1752+15dup NP_001182068.2:n.1752+5_1752+15dup
NM_001365426.1:c.1401+5_1401+15dup NP_001352355.1:n.1401+5_1401+15dup
NR_158212.1:n.1786+5_1786+15dup