Canonical Allele Identifier: CA623217888

Gene: COG4

Linked Data

• dbSNP Id: rs1417814966
• gnomAD v2: 16-70515309-TGTCTC-T
• gnomAD v3: 16-70481406-TGTCTC-T
• gnomAD v4: 16-70481406-TGTCTC-T
• MyVariant Identifiers: chr16:g.70515310_70515314del (hg19) ; chr16:g.70481407_70481411del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481408_70481412del , CM000678.2:g.70481408_70481412del	GRCh38
NC_000016.9:g.70515311_70515315del , CM000678.1:g.70515311_70515315del	GRCh37
NC_000016.8:g.69072812_69072816del	NCBI36
NG_027529.1:g.47144_47148del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2259_*2263del	ENSP00000461912.2:n.*2259_*2263del
ENST00000703106.1:c.2228_2232del	ENSP00000515173.1:n.2228_2232del
ENST00000703107.1:c.*2112_*2116del	ENSP00000515174.1:n.*2112_*2116del
ENST00000703108.1:c.*631_*635del	ENSP00000515175.1:n.*631_*635del
ENST00000703109.1:c.2216_2220del	ENSP00000515176.1:p.Arg739GlnfsTer?
ENST00000703110.1:c.*1685_*1689del	ENSP00000515177.1:n.*1685_*1689del
ENST00000703111.1:n.2466_2470del
ENST00000703112.1:n.3127_3131del
ENST00000703113.1:c.*1596_*1600del	ENSP00000515178.1:n.*1596_*1600del
ENST00000703114.1:c.*832_*836del	ENSP00000515179.1:n.*832_*836del
ENST00000703115.1:c.1296_1300del	ENSP00000515180.1:n.1296_1300del
ENST00000323786.10:c.2183_2187del MANE Select	ENSP00000315775.5:p.Arg728GlnfsTer?
ENST00000564415.6:c.*1963_*1967del	ENSP00000456653.2:n.*1963_*1967del
ENST00000674443.1:c.2108_2112del	ENSP00000501405.1:p.Arg703GlnfsTer?
ENST00000323786.9:c.2183_2187del	ENSP00000315775.5:p.Arg728GlnfsTer?
ENST00000393612.8:c.2120_2124del	ENSP00000377236.5:p.Arg707GlnfsTer?
ENST00000482252.5:c.2330_2334del	ENSP00000432802.1:n.2330_2334del
ENST00000526700.5:n.1359_1363del
ENST00000530314.5:n.2862_2866del
ENST00000564415.5:c.*1963_*1967del	ENSP00000456653.1:n.*1963_*1967del
ENST00000565715.1:c.245_249del	ENSP00000455693.1:p.Arg82GlnfsTer?
NM_001195139.1:c.2120_2124del	NP_001182068.1:p.Arg707GlnfsTer?
NM_015386.2:c.2183_2187del	NP_056201.2:p.Arg728GlnfsTer?
XM_011522981.1:c.1757_1761del	XP_011521283.1:p.Arg586GlnfsTer?
XM_011522981.3:c.1757_1761del	XP_011521283.1:p.Arg586GlnfsTer?
XM_024450224.1:c.1202_1206del	XP_024305992.1:p.Arg401GlnfsTer?
XR_933266.2:n.2129_2133del
NM_015386.3:c.2183_2187del MANE Select	NP_056201.2:p.Arg728GlnfsTer?
NM_001195139.2:c.2108_2112del	NP_001182068.2:p.Arg703GlnfsTer?
NM_001365426.1:c.1757_1761del	NP_001352355.1:p.Arg586GlnfsTer?
NR_158212.1:n.2142_2146del