Canonical Allele Identifier: CA2840459706

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481484_70481485del , CM000678.2:g.70481484_70481485del	GRCh38
NC_000016.9:g.70515387_70515388del , CM000678.1:g.70515387_70515388del	GRCh37
NC_000016.8:g.69072888_69072889del	NCBI36
NG_027529.1:g.47071_47072del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2186_*2187del	ENSP00000461912.2:n.*2186_*2187del
ENST00000703106.1:c.2155_2156del	ENSP00000515173.1:n.2155_2156del
ENST00000703107.1:c.*2039_*2040del	ENSP00000515174.1:n.*2039_*2040del
ENST00000703108.1:c.*558_*559del	ENSP00000515175.1:n.*558_*559del
ENST00000703109.1:c.2143_2144del	ENSP00000515176.1:p.Gly715TrpfsTer5
ENST00000703110.1:c.*1612_*1613del	ENSP00000515177.1:n.*1612_*1613del
ENST00000703111.1:n.2393_2394del
ENST00000703112.1:n.3054_3055del
ENST00000703113.1:c.*1523_*1524del	ENSP00000515178.1:n.*1523_*1524del
ENST00000703114.1:c.*759_*760del	ENSP00000515179.1:n.*759_*760del
ENST00000703115.1:c.1223_1224del	ENSP00000515180.1:n.1223_1224del
ENST00000323786.10:c.2110_2111del MANE Select	ENSP00000315775.5:p.Gly704TrpfsTer5
ENST00000564415.6:c.*1890_*1891del	ENSP00000456653.2:n.*1890_*1891del
ENST00000674443.1:c.2035_2036del	ENSP00000501405.1:p.Gly679TrpfsTer5
ENST00000323786.9:c.2110_2111del	ENSP00000315775.5:p.Gly704TrpfsTer5
ENST00000393612.8:c.2047_2048del	ENSP00000377236.5:p.Gly683TrpfsTer5
ENST00000482252.5:c.2257_2258del	ENSP00000432802.1:n.2257_2258del
ENST00000526700.5:n.1286_1287del
ENST00000530314.5:n.2789_2790del
ENST00000564415.5:c.*1890_*1891del	ENSP00000456653.1:n.*1890_*1891del
ENST00000565715.1:c.172_173del	ENSP00000455693.1:p.Gly58TrpfsTer5
NM_001195139.1:c.2047_2048del	NP_001182068.1:p.Gly683TrpfsTer5
NM_015386.2:c.2110_2111del	NP_056201.2:p.Gly704TrpfsTer5
XM_011522981.1:c.1684_1685del	XP_011521283.1:p.Gly562TrpfsTer5
XM_011522981.3:c.1684_1685del	XP_011521283.1:p.Gly562TrpfsTer5
XM_024450224.1:c.1129_1130del	XP_024305992.1:p.Gly377TrpfsTer5
XR_001751889.1:n.1993_1994del
XR_933266.2:n.2056_2057del
NM_015386.3:c.2110_2111del MANE Select	NP_056201.2:p.Gly704TrpfsTer5
NM_001195139.2:c.2035_2036del	NP_001182068.2:p.Gly679TrpfsTer5
NM_001365426.1:c.1684_1685del	NP_001352355.1:p.Gly562TrpfsTer5
NR_158212.1:n.2069_2070del