Canonical Allele Identifier: CA2576047433

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483846_70483847del , CM000678.2:g.70483846_70483847del	GRCh38
NC_000016.9:g.70517749_70517750del , CM000678.1:g.70517749_70517750del	GRCh37
NC_000016.8:g.69075250_69075251del	NCBI36
NG_027529.1:g.44710_44711del

Transcript Alleles

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