Canonical Allele Identifier: CA2230762773

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483767_70483768delinsTC , CM000678.2:g.70483767_70483768delinsTC	GRCh38
NC_000016.9:g.70517670_70517671delinsTC , CM000678.1:g.70517670_70517671delinsTC	GRCh37
NC_000016.8:g.69075171_69075172delinsTC	NCBI36
NG_027529.1:g.44787_44788delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1903+85_*1903+86delinsGA	ENSP00000461912.2:n.*1903+85_*1903+86delinsGA
ENST00000703106.1:c.1872+85_1872+86delinsGA	ENSP00000515173.1:n.1872+85_1872+86delinsGA
ENST00000703107.1:c.*1756+85_*1756+86delinsGA	ENSP00000515174.1:n.*1756+85_*1756+86delinsGA
ENST00000703108.1:c.*275+85_*275+86delinsGA	ENSP00000515175.1:n.*275+85_*275+86delinsGA
ENST00000703109.1:c.1860+85_1860+86delinsGA	ENSP00000515176.1:n.1860+85_1860+86delinsGA
ENST00000703110.1:c.*1329+85_*1329+86delinsGA	ENSP00000515177.1:n.*1329+85_*1329+86delinsGA
ENST00000703111.1:n.1834+85_1834+86delinsGA
ENST00000703112.1:n.2600+85_2600+86delinsGA
ENST00000703113.1:c.*1240+85_*1240+86delinsGA	ENSP00000515178.1:n.*1240+85_*1240+86delinsGA
ENST00000703114.1:c.*476+85_*476+86delinsGA	ENSP00000515179.1:n.*476+85_*476+86delinsGA
ENST00000703115.1:c.940+85_940+86delinsGA	ENSP00000515180.1:n.940+85_940+86delinsGA
ENST00000323786.10:c.1827+85_1827+86delinsGA MANE Select	ENSP00000315775.5:n.1827+85_1827+86delinsGA
ENST00000564415.6:c.*1607+85_*1607+86delinsGA	ENSP00000456653.2:n.*1607+85_*1607+86delinsGA
ENST00000674443.1:c.1752+85_1752+86delinsGA	ENSP00000501405.1:n.1752+85_1752+86delinsGA
ENST00000323786.9:c.1827+85_1827+86delinsGA	ENSP00000315775.5:n.1827+85_1827+86delinsGA
ENST00000393612.8:c.1764+85_1764+86delinsGA	ENSP00000377236.5:n.1764+85_1764+86delinsGA
ENST00000482252.5:c.1974+85_1974+86delinsGA	ENSP00000432802.1:n.1974+85_1974+86delinsGA
ENST00000526700.5:n.1003+85_1003+86delinsGA
ENST00000530314.5:n.2506+85_2506+86delinsGA
ENST00000564315.1:n.287+85_287+86delinsGA
ENST00000564415.5:c.*1607+85_*1607+86delinsGA	ENSP00000456653.1:n.*1607+85_*1607+86delinsGA
NM_001195139.1:c.1764+85_1764+86delinsGA	NP_001182068.1:n.1764+85_1764+86delinsGA
NM_015386.2:c.1827+85_1827+86delinsGA	NP_056201.2:n.1827+85_1827+86delinsGA
XM_011522981.1:c.1401+85_1401+86delinsGA	XP_011521283.1:n.1401+85_1401+86delinsGA
XR_933266.1:n.1773+85_1773+86delinsGA
XR_933267.1:n.1773+85_1773+86delinsGA
XM_011522981.3:c.1401+85_1401+86delinsGA	XP_011521283.1:n.1401+85_1401+86delinsGA
XM_024450224.1:c.846+85_846+86delinsGA	XP_024305992.1:n.846+85_846+86delinsGA
XR_001751889.1:n.1710+85_1710+86delinsGA
XR_933266.2:n.1773+85_1773+86delinsGA
NM_015386.3:c.1827+85_1827+86delinsGA MANE Select	NP_056201.2:n.1827+85_1827+86delinsGA
NM_001195139.2:c.1752+85_1752+86delinsGA	NP_001182068.2:n.1752+85_1752+86delinsGA
NM_001365426.1:c.1401+85_1401+86delinsGA	NP_001352355.1:n.1401+85_1401+86delinsGA
NR_158212.1:n.1786+85_1786+86delinsGA