Canonical Allele Identifier: CA623218235

Gene: COG4

Linked Data

• dbSNP Id: rs1161315457
• gnomAD v2: 16-70517823-TG-T
• MyVariant Identifiers: chr16:g.70517824del (hg19) ; chr16:g.70483921del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483923del , CM000678.2:g.70483923del	GRCh38
NC_000016.9:g.70517826del , CM000678.1:g.70517826del	GRCh37
NC_000016.8:g.69075327del	NCBI36
NG_027529.1:g.44634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1835del	ENSP00000461912.2:n.*1835del
ENST00000703106.1:c.1804del	ENSP00000515173.1:n.1804del
ENST00000703107.1:c.*1688del	ENSP00000515174.1:n.*1688del
ENST00000703108.1:c.*207del	ENSP00000515175.1:n.*207del
ENST00000703109.1:c.1792del	ENSP00000515176.1:p.Gln598ArgfsTer26
ENST00000703110.1:c.*1261del	ENSP00000515177.1:n.*1261del
ENST00000703111.1:n.1766del
ENST00000703112.1:n.2532del
ENST00000703113.1:c.*1172del	ENSP00000515178.1:n.*1172del
ENST00000703114.1:c.*408del	ENSP00000515179.1:n.*408del
ENST00000703115.1:c.872del	ENSP00000515180.1:n.872del
ENST00000323786.10:c.1759del MANE Select	ENSP00000315775.5:p.Gln587ArgfsTer26
ENST00000564415.6:c.*1539del	ENSP00000456653.2:n.*1539del
ENST00000674443.1:c.1684del	ENSP00000501405.1:p.Gln562ArgfsTer26
ENST00000323786.9:c.1759del	ENSP00000315775.5:p.Gln587ArgfsTer26
ENST00000393612.8:c.1696del	ENSP00000377236.5:p.Gln566ArgfsTer26
ENST00000482252.5:c.1906del	ENSP00000432802.1:n.1906del
ENST00000526700.5:n.935del
ENST00000530314.5:n.2438del
ENST00000564315.1:n.219del
ENST00000564415.5:c.*1539del	ENSP00000456653.1:n.*1539del
NM_001195139.1:c.1696del	NP_001182068.1:p.Gln566ArgfsTer26
NM_015386.2:c.1759del	NP_056201.2:p.Gln587ArgfsTer26
XM_011522981.1:c.1333del	XP_011521283.1:p.Gln445ArgfsTer26
XR_933266.1:n.1705del
XR_933267.1:n.1705del
XM_011522981.3:c.1333del	XP_011521283.1:p.Gln445ArgfsTer26
XM_024450224.1:c.778del	XP_024305992.1:p.Gln260ArgfsTer26
XR_001751889.1:n.1642del
XR_933266.2:n.1705del
NM_015386.3:c.1759del MANE Select	NP_056201.2:p.Gln587ArgfsTer26
NM_001195139.2:c.1684del	NP_001182068.2:p.Gln562ArgfsTer26
NM_001365426.1:c.1333del	NP_001352355.1:p.Gln445ArgfsTer26
NR_158212.1:n.1718del