Canonical Allele Identifier: CA723363774

Gene: COG4

Linked Data

• dbSNP Id: rs1335460750
• gnomAD v3: 16-70484185-CAG-C
• gnomAD v4: 16-70484185-CAG-C
• MyVariant Identifiers: chr16:g.70518089_70518090del (hg19) ; chr16:g.70484186_70484187del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70484187_70484188del , CM000678.2:g.70484187_70484188del	GRCh38
NC_000016.9:g.70518090_70518091del , CM000678.1:g.70518090_70518091del	GRCh37
NC_000016.8:g.69075591_69075592del	NCBI36
NG_027529.1:g.44368_44369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1787-218_*1787-217del	ENSP00000461912.2:n.*1787-218_*1787-217del
ENST00000703106.1:c.1660-122_1660-121del	ENSP00000515173.1:n.1660-122_1660-121del
ENST00000703107.1:c.*1640-218_*1640-217del	ENSP00000515174.1:n.*1640-218_*1640-217del
ENST00000703108.1:c.*159-218_*159-217del	ENSP00000515175.1:n.*159-218_*159-217del
ENST00000703109.1:c.1744-218_1744-217del	ENSP00000515176.1:n.1744-218_1744-217del
ENST00000703110.1:c.*1213-218_*1213-217del	ENSP00000515177.1:n.*1213-218_*1213-217del
ENST00000703111.1:n.1718-218_1718-217del
ENST00000703112.1:n.2484-218_2484-217del
ENST00000703113.1:c.*1124-218_*1124-217del	ENSP00000515178.1:n.*1124-218_*1124-217del
ENST00000703114.1:c.*360-218_*360-217del	ENSP00000515179.1:n.*360-218_*360-217del
ENST00000703115.1:c.824-218_824-217del	ENSP00000515180.1:n.824-218_824-217del
ENST00000323786.10:c.1711-218_1711-217del MANE Select	ENSP00000315775.5:n.1711-218_1711-217del
ENST00000564415.6:c.*1491-218_*1491-217del	ENSP00000456653.2:n.*1491-218_*1491-217del
ENST00000674443.1:c.1636-218_1636-217del	ENSP00000501405.1:n.1636-218_1636-217del
ENST00000323786.9:c.1711-218_1711-217del	ENSP00000315775.5:n.1711-218_1711-217del
ENST00000393612.8:c.1648-218_1648-217del	ENSP00000377236.5:n.1648-218_1648-217del
ENST00000482252.5:c.1858-218_1858-217del	ENSP00000432802.1:n.1858-218_1858-217del
ENST00000526700.5:n.887-218_887-217del
ENST00000530314.5:n.2390-218_2390-217del
ENST00000564315.1:n.171-218_171-217del
ENST00000564415.5:c.*1491-218_*1491-217del	ENSP00000456653.1:n.*1491-218_*1491-217del
NM_001195139.1:c.1648-218_1648-217del	NP_001182068.1:n.1648-218_1648-217del
NM_015386.2:c.1711-218_1711-217del	NP_056201.2:n.1711-218_1711-217del
XM_011522981.1:c.1285-218_1285-217del	XP_011521283.1:n.1285-218_1285-217del
XR_933266.1:n.1657-218_1657-217del
XR_933267.1:n.1657-218_1657-217del
XM_011522981.3:c.1285-218_1285-217del	XP_011521283.1:n.1285-218_1285-217del
XM_024450224.1:c.730-218_730-217del	XP_024305992.1:n.730-218_730-217del
XR_001751889.1:n.1594-218_1594-217del
XR_933266.2:n.1657-218_1657-217del
NM_015386.3:c.1711-218_1711-217del MANE Select	NP_056201.2:n.1711-218_1711-217del
NM_001195139.2:c.1636-218_1636-217del	NP_001182068.2:n.1636-218_1636-217del
NM_001365426.1:c.1285-218_1285-217del	NP_001352355.1:n.1285-218_1285-217del
NR_158212.1:n.1670-218_1670-217del