Canonical Allele Identifier: CA723363304

Gene: COG4

Linked Data

• dbSNP Id: rs1381146823
• gnomAD v3: 16-70483766-TTCCTTGCA-T
• gnomAD v4: 16-70483766-TTCCTTGCA-T
• MyVariant Identifiers: chr16:g.70517670_70517677del (hg19) ; chr16:g.70483767_70483774del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483767_70483774del , CM000678.2:g.70483767_70483774del	GRCh38
NC_000016.9:g.70517670_70517677del , CM000678.1:g.70517670_70517677del	GRCh37
NC_000016.8:g.69075171_69075178del	NCBI36
NG_027529.1:g.44781_44788del

Transcript Alleles

HGVS	Amino-acid change
ENST00000534772.2:c.*1903+79_*1903+86del	ENSP00000461912.2:n.*1903+79_*1903+86del
ENST00000703106.1:c.1872+79_1872+86del	ENSP00000515173.1:n.1872+79_1872+86del
ENST00000703107.1:c.*1756+79_*1756+86del	ENSP00000515174.1:n.*1756+79_*1756+86del
ENST00000703108.1:c.*275+79_*275+86del	ENSP00000515175.1:n.*275+79_*275+86del
ENST00000703109.1:c.1860+79_1860+86del	ENSP00000515176.1:n.1860+79_1860+86del
ENST00000703110.1:c.*1329+79_*1329+86del	ENSP00000515177.1:n.*1329+79_*1329+86del
ENST00000703111.1:n.1834+79_1834+86del
ENST00000703112.1:n.2600+79_2600+86del
ENST00000703113.1:c.*1240+79_*1240+86del	ENSP00000515178.1:n.*1240+79_*1240+86del
ENST00000703114.1:c.*476+79_*476+86del	ENSP00000515179.1:n.*476+79_*476+86del
ENST00000703115.1:c.940+79_940+86del	ENSP00000515180.1:n.940+79_940+86del
ENST00000323786.10:c.1827+79_1827+86del MANE Select	ENSP00000315775.5:n.1827+79_1827+86del
ENST00000564415.6:c.*1607+79_*1607+86del	ENSP00000456653.2:n.*1607+79_*1607+86del
ENST00000674443.1:c.1752+79_1752+86del	ENSP00000501405.1:n.1752+79_1752+86del
ENST00000323786.9:c.1827+79_1827+86del	ENSP00000315775.5:n.1827+79_1827+86del
ENST00000393612.8:c.1764+79_1764+86del	ENSP00000377236.5:n.1764+79_1764+86del
ENST00000482252.5:c.1974+79_1974+86del	ENSP00000432802.1:n.1974+79_1974+86del
ENST00000526700.5:n.1003+79_1003+86del
ENST00000530314.5:n.2506+79_2506+86del
ENST00000564315.1:n.287+79_287+86del
ENST00000564415.5:c.*1607+79_*1607+86del	ENSP00000456653.1:n.*1607+79_*1607+86del
NM_001195139.1:c.1764+79_1764+86del	NP_001182068.1:n.1764+79_1764+86del
NM_015386.2:c.1827+79_1827+86del	NP_056201.2:n.1827+79_1827+86del
XM_011522981.1:c.1401+79_1401+86del	XP_011521283.1:n.1401+79_1401+86del
XR_933266.1:n.1773+79_1773+86del
XR_933267.1:n.1773+79_1773+86del
XM_011522981.3:c.1401+79_1401+86del	XP_011521283.1:n.1401+79_1401+86del
XM_024450224.1:c.846+79_846+86del	XP_024305992.1:n.846+79_846+86del
XR_001751889.1:n.1710+79_1710+86del
XR_933266.2:n.1773+79_1773+86del
NM_015386.3:c.1827+79_1827+86del MANE Select	NP_056201.2:n.1827+79_1827+86del
NM_001195139.2:c.1752+79_1752+86del	NP_001182068.2:n.1752+79_1752+86del
NM_001365426.1:c.1401+79_1401+86del	NP_001352355.1:n.1401+79_1401+86del
NR_158212.1:n.1786+79_1786+86del