Canonical Allele Identifier: CA723363340

Gene: COG4

Linked Data

• dbSNP Id: rs1465007464
• gnomAD v3: 16-70483801-CAG-C
• gnomAD v4: 16-70483801-CAG-C
• MyVariant Identifiers: chr16:g.70517705_70517706del (hg19) ; chr16:g.70483802_70483803del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483804_70483805del , CM000678.2:g.70483804_70483805del	GRCh38
NC_000016.9:g.70517707_70517708del , CM000678.1:g.70517707_70517708del	GRCh37
NC_000016.8:g.69075208_69075209del	NCBI36
NG_027529.1:g.44752_44753del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1903+50_*1903+51del	ENSP00000461912.2:n.*1903+50_*1903+51del
ENST00000703106.1:c.1872+50_1872+51del	ENSP00000515173.1:n.1872+50_1872+51del
ENST00000703107.1:c.*1756+50_*1756+51del	ENSP00000515174.1:n.*1756+50_*1756+51del
ENST00000703108.1:c.*275+50_*275+51del	ENSP00000515175.1:n.*275+50_*275+51del
ENST00000703109.1:c.1860+50_1860+51del	ENSP00000515176.1:n.1860+50_1860+51del
ENST00000703110.1:c.*1329+50_*1329+51del	ENSP00000515177.1:n.*1329+50_*1329+51del
ENST00000703111.1:n.1834+50_1834+51del
ENST00000703112.1:n.2600+50_2600+51del
ENST00000703113.1:c.*1240+50_*1240+51del	ENSP00000515178.1:n.*1240+50_*1240+51del
ENST00000703114.1:c.*476+50_*476+51del	ENSP00000515179.1:n.*476+50_*476+51del
ENST00000703115.1:c.940+50_940+51del	ENSP00000515180.1:n.940+50_940+51del
ENST00000323786.10:c.1827+50_1827+51del MANE Select	ENSP00000315775.5:n.1827+50_1827+51del
ENST00000564415.6:c.*1607+50_*1607+51del	ENSP00000456653.2:n.*1607+50_*1607+51del
ENST00000674443.1:c.1752+50_1752+51del	ENSP00000501405.1:n.1752+50_1752+51del
ENST00000323786.9:c.1827+50_1827+51del	ENSP00000315775.5:n.1827+50_1827+51del
ENST00000393612.8:c.1764+50_1764+51del	ENSP00000377236.5:n.1764+50_1764+51del
ENST00000482252.5:c.1974+50_1974+51del	ENSP00000432802.1:n.1974+50_1974+51del
ENST00000526700.5:n.1003+50_1003+51del
ENST00000530314.5:n.2506+50_2506+51del
ENST00000564315.1:n.287+50_287+51del
ENST00000564415.5:c.*1607+50_*1607+51del	ENSP00000456653.1:n.*1607+50_*1607+51del
NM_001195139.1:c.1764+50_1764+51del	NP_001182068.1:n.1764+50_1764+51del
NM_015386.2:c.1827+50_1827+51del	NP_056201.2:n.1827+50_1827+51del
XM_011522981.1:c.1401+50_1401+51del	XP_011521283.1:n.1401+50_1401+51del
XR_933266.1:n.1773+50_1773+51del
XR_933267.1:n.1773+50_1773+51del
XM_011522981.3:c.1401+50_1401+51del	XP_011521283.1:n.1401+50_1401+51del
XM_024450224.1:c.846+50_846+51del	XP_024305992.1:n.846+50_846+51del
XR_001751889.1:n.1710+50_1710+51del
XR_933266.2:n.1773+50_1773+51del
NM_015386.3:c.1827+50_1827+51del MANE Select	NP_056201.2:n.1827+50_1827+51del
NM_001195139.2:c.1752+50_1752+51del	NP_001182068.2:n.1752+50_1752+51del
NM_001365426.1:c.1401+50_1401+51del	NP_001352355.1:n.1401+50_1401+51del
NR_158212.1:n.1786+50_1786+51del