Canonical Allele Identifier: CA723363754

Gene: COG4

Linked Data

• dbSNP Id: rs1484362275
• MyVariant Identifiers: chr16:g.70518056_70518069del (hg19) ; chr16:g.70484153_70484166del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70484157_70484170del , CM000678.2:g.70484157_70484170del	GRCh38
NC_000016.9:g.70518060_70518073del , CM000678.1:g.70518060_70518073del	GRCh37
NC_000016.8:g.69075561_69075574del	NCBI36
NG_027529.1:g.44389_44402del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1787-197_*1787-184del	ENSP00000461912.2:n.*1787-197_*1787-184del
ENST00000703106.1:c.1660-101_1660-88del	ENSP00000515173.1:n.1660-101_1660-88del
ENST00000703107.1:c.*1640-197_*1640-184del	ENSP00000515174.1:n.*1640-197_*1640-184del
ENST00000703108.1:c.*159-197_*159-184del	ENSP00000515175.1:n.*159-197_*159-184del
ENST00000703109.1:c.1744-197_1744-184del	ENSP00000515176.1:n.1744-197_1744-184del
ENST00000703110.1:c.*1213-197_*1213-184del	ENSP00000515177.1:n.*1213-197_*1213-184del
ENST00000703111.1:n.1718-197_1718-184del
ENST00000703112.1:n.2484-197_2484-184del
ENST00000703113.1:c.*1124-197_*1124-184del	ENSP00000515178.1:n.*1124-197_*1124-184del
ENST00000703114.1:c.*360-197_*360-184del	ENSP00000515179.1:n.*360-197_*360-184del
ENST00000703115.1:c.824-197_824-184del	ENSP00000515180.1:n.824-197_824-184del
ENST00000323786.10:c.1711-197_1711-184del MANE Select	ENSP00000315775.5:n.1711-197_1711-184del
ENST00000564415.6:c.*1491-197_*1491-184del	ENSP00000456653.2:n.*1491-197_*1491-184del
ENST00000674443.1:c.1636-197_1636-184del	ENSP00000501405.1:n.1636-197_1636-184del
ENST00000323786.9:c.1711-197_1711-184del	ENSP00000315775.5:n.1711-197_1711-184del
ENST00000393612.8:c.1648-197_1648-184del	ENSP00000377236.5:n.1648-197_1648-184del
ENST00000482252.5:c.1858-197_1858-184del	ENSP00000432802.1:n.1858-197_1858-184del
ENST00000526700.5:n.887-197_887-184del
ENST00000530314.5:n.2390-197_2390-184del
ENST00000564315.1:n.171-197_171-184del
ENST00000564415.5:c.*1491-197_*1491-184del	ENSP00000456653.1:n.*1491-197_*1491-184del
NM_001195139.1:c.1648-197_1648-184del	NP_001182068.1:n.1648-197_1648-184del
NM_015386.2:c.1711-197_1711-184del	NP_056201.2:n.1711-197_1711-184del
XM_011522981.1:c.1285-197_1285-184del	XP_011521283.1:n.1285-197_1285-184del
XR_933266.1:n.1657-197_1657-184del
XR_933267.1:n.1657-197_1657-184del
XM_011522981.3:c.1285-197_1285-184del	XP_011521283.1:n.1285-197_1285-184del
XM_024450224.1:c.730-197_730-184del	XP_024305992.1:n.730-197_730-184del
XR_001751889.1:n.1594-197_1594-184del
XR_933266.2:n.1657-197_1657-184del
NM_015386.3:c.1711-197_1711-184del MANE Select	NP_056201.2:n.1711-197_1711-184del
NM_001195139.2:c.1636-197_1636-184del	NP_001182068.2:n.1636-197_1636-184del
NM_001365426.1:c.1285-197_1285-184del	NP_001352355.1:n.1285-197_1285-184del
NR_158212.1:n.1670-197_1670-184del