Canonical Allele Identifier: CA623220300
Gene: COG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70490387_70490388del , CM000678.2:g.70490387_70490388del GRCh38
NC_000016.9:g.70524290_70524291del , CM000678.1:g.70524290_70524291del GRCh37
NC_000016.8:g.69081791_69081792del NCBI36
NG_027529.1:g.38169_38170del

Transcript Alleles

HGVS Amino-acid Change
NM_015386.3:c.1654_1655del MANE Select NP_056201.2:p.Leu552GlufsTer8
ENST00000323786.10:c.1654_1655del MANE Select ENSP00000315775.5:p.Leu552GlufsTer8
NM_001195139.1:c.1647+5880_1647+5881del NP_001182068.1:n.1647+5880_1647+5881del
NM_001195139.2:c.1635+5880_1635+5881del NP_001182068.2:n.1635+5880_1635+5881del
NM_001365426.1:c.1228_1229del NP_001352355.1:p.Leu410GlufsTer8
NM_015386.2:c.1654_1655del NP_056201.2:p.Leu552GlufsTer8
NR_158212.1:n.1613_1614del
ENST00000323786.9:c.1654_1655del ENSP00000315775.5:p.Leu552GlufsTer8
ENST00000393612.8:c.1647+5880_1647+5881del ENSP00000377236.5:n.1647+5880_1647+5881del
ENST00000482252.5:c.1801_1802del ENSP00000432802.1:n.1801_1802del
ENST00000526700.5:n.886+5880_886+5881del
ENST00000530314.5:n.2333_2334del
ENST00000534772.2:c.*1730_*1731del ENSP00000461912.2:n.*1730_*1731del
ENST00000564315.1:n.114_115del
ENST00000564415.5:c.*1434_*1435del ENSP00000456653.1:n.*1434_*1435del
ENST00000564415.6:c.*1434_*1435del ENSP00000456653.2:n.*1434_*1435del
ENST00000674443.1:c.1635+5880_1635+5881del ENSP00000501405.1:n.1635+5880_1635+5881del
ENST00000703106.1:c.1603_1604del ENSP00000515173.1:p.Leu535GlufsTer8
ENST00000703107.1:c.*1583_*1584del ENSP00000515174.1:n.*1583_*1584del
ENST00000703108.1:c.*102_*103del ENSP00000515175.1:n.*102_*103del
ENST00000703109.1:c.1561_1562del ENSP00000515176.1:p.Leu521GlufsTer8
ENST00000703110.1:c.*1212+5880_*1212+5881del ENSP00000515177.1:n.*1212+5880_*1212+5881del
ENST00000703111.1:n.1661_1662del
ENST00000703112.1:n.2427_2428del
ENST00000703113.1:c.*1067_*1068del ENSP00000515178.1:n.*1067_*1068del
ENST00000703114.1:c.*303_*304del ENSP00000515179.1:n.*303_*304del
ENST00000703115.1:c.790-23_790-22del ENSP00000515180.1:n.790-23_790-22del
XM_011522981.1:c.1228_1229del XP_011521283.1:p.Leu410GlufsTer8
XM_011522981.3:c.1228_1229del XP_011521283.1:p.Leu410GlufsTer8
XM_024450224.1:c.729+5880_729+5881del XP_024305992.1:n.729+5880_729+5881del
XR_001751889.1:n.1593+5880_1593+5881del
XR_933266.1:n.1600_1601del
XR_933266.2:n.1600_1601del
XR_933267.1:n.1600_1601del