Canonical Allele Identifier: CA2576047425

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483813_70483814del , CM000678.2:g.70483813_70483814del	GRCh38
NC_000016.9:g.70517716_70517717del , CM000678.1:g.70517716_70517717del	GRCh37
NC_000016.8:g.69075217_69075218del	NCBI36
NG_027529.1:g.44746_44747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1903+44_*1903+45del	ENSP00000461912.2:n.*1903+44_*1903+45del
ENST00000703106.1:c.1872+44_1872+45del	ENSP00000515173.1:n.1872+44_1872+45del
ENST00000703107.1:c.*1756+44_*1756+45del	ENSP00000515174.1:n.*1756+44_*1756+45del
ENST00000703108.1:c.*275+44_*275+45del	ENSP00000515175.1:n.*275+44_*275+45del
ENST00000703109.1:c.1860+44_1860+45del	ENSP00000515176.1:n.1860+44_1860+45del
ENST00000703110.1:c.*1329+44_*1329+45del	ENSP00000515177.1:n.*1329+44_*1329+45del
ENST00000703111.1:n.1834+44_1834+45del
ENST00000703112.1:n.2600+44_2600+45del
ENST00000703113.1:c.*1240+44_*1240+45del	ENSP00000515178.1:n.*1240+44_*1240+45del
ENST00000703114.1:c.*476+44_*476+45del	ENSP00000515179.1:n.*476+44_*476+45del
ENST00000703115.1:c.940+44_940+45del	ENSP00000515180.1:n.940+44_940+45del
ENST00000323786.10:c.1827+44_1827+45del MANE Select	ENSP00000315775.5:n.1827+44_1827+45del
ENST00000564415.6:c.*1607+44_*1607+45del	ENSP00000456653.2:n.*1607+44_*1607+45del
ENST00000674443.1:c.1752+44_1752+45del	ENSP00000501405.1:n.1752+44_1752+45del
ENST00000323786.9:c.1827+44_1827+45del	ENSP00000315775.5:n.1827+44_1827+45del
ENST00000393612.8:c.1764+44_1764+45del	ENSP00000377236.5:n.1764+44_1764+45del
ENST00000482252.5:c.1974+44_1974+45del	ENSP00000432802.1:n.1974+44_1974+45del
ENST00000526700.5:n.1003+44_1003+45del
ENST00000530314.5:n.2506+44_2506+45del
ENST00000564315.1:n.287+44_287+45del
ENST00000564415.5:c.*1607+44_*1607+45del	ENSP00000456653.1:n.*1607+44_*1607+45del
NM_001195139.1:c.1764+44_1764+45del	NP_001182068.1:n.1764+44_1764+45del
NM_015386.2:c.1827+44_1827+45del	NP_056201.2:n.1827+44_1827+45del
XM_011522981.1:c.1401+44_1401+45del	XP_011521283.1:n.1401+44_1401+45del
XR_933266.1:n.1773+44_1773+45del
XR_933267.1:n.1773+44_1773+45del
XM_011522981.3:c.1401+44_1401+45del	XP_011521283.1:n.1401+44_1401+45del
XM_024450224.1:c.846+44_846+45del	XP_024305992.1:n.846+44_846+45del
XR_001751889.1:n.1710+44_1710+45del
XR_933266.2:n.1773+44_1773+45del
NM_015386.3:c.1827+44_1827+45del MANE Select	NP_056201.2:n.1827+44_1827+45del
NM_001195139.2:c.1752+44_1752+45del	NP_001182068.2:n.1752+44_1752+45del
NM_001365426.1:c.1401+44_1401+45del	NP_001352355.1:n.1401+44_1401+45del
NR_158212.1:n.1786+44_1786+45del