Canonical Allele Identifier: CA2840459705

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481411dup , CM000678.2:g.70481411dup	GRCh38
NC_000016.9:g.70515314dup , CM000678.1:g.70515314dup	GRCh37
NC_000016.8:g.69072815dup	NCBI36
NG_027529.1:g.47144dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2259dup	ENSP00000461912.2:n.*2259dup
ENST00000703106.1:c.2228dup	ENSP00000515173.1:n.2228dup
ENST00000703107.1:c.*2112dup	ENSP00000515174.1:n.*2112dup
ENST00000703108.1:c.*631dup	ENSP00000515175.1:n.*631dup
ENST00000703109.1:c.2216dup	ENSP00000515176.1:p.Asp740ArgfsTer?
ENST00000703110.1:c.*1685dup	ENSP00000515177.1:n.*1685dup
ENST00000703111.1:n.2466dup
ENST00000703112.1:n.3127dup
ENST00000703113.1:c.*1596dup	ENSP00000515178.1:n.*1596dup
ENST00000703114.1:c.*832dup	ENSP00000515179.1:n.*832dup
ENST00000703115.1:c.1296dup	ENSP00000515180.1:n.1296dup
ENST00000323786.10:c.2183dup MANE Select	ENSP00000315775.5:p.Asp729ArgfsTer?
ENST00000564415.6:c.*1963dup	ENSP00000456653.2:n.*1963dup
ENST00000674443.1:c.2108dup	ENSP00000501405.1:p.Asp704ArgfsTer?
ENST00000323786.9:c.2183dup	ENSP00000315775.5:p.Asp729ArgfsTer?
ENST00000393612.8:c.2120dup	ENSP00000377236.5:p.Asp708ArgfsTer?
ENST00000482252.5:c.2330dup	ENSP00000432802.1:n.2330dup
ENST00000526700.5:n.1359dup
ENST00000530314.5:n.2862dup
ENST00000564415.5:c.*1963dup	ENSP00000456653.1:n.*1963dup
ENST00000565715.1:c.245dup	ENSP00000455693.1:p.Asp83ArgfsTer?
NM_001195139.1:c.2120dup	NP_001182068.1:p.Asp708ArgfsTer?
NM_015386.2:c.2183dup	NP_056201.2:p.Asp729ArgfsTer?
XM_011522981.1:c.1757dup	XP_011521283.1:p.Asp587ArgfsTer?
XM_011522981.3:c.1757dup	XP_011521283.1:p.Asp587ArgfsTer?
XM_024450224.1:c.1202dup	XP_024305992.1:p.Asp402ArgfsTer?
XR_933266.2:n.2129dup
NM_015386.3:c.2183dup MANE Select	NP_056201.2:p.Asp729ArgfsTer?
NM_001195139.2:c.2108dup	NP_001182068.2:p.Asp704ArgfsTer?
NM_001365426.1:c.1757dup	NP_001352355.1:p.Asp587ArgfsTer?
NR_158212.1:n.2142dup