Canonical Allele Identifier: CA2230763144

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70484152_70484166delinsGGGGGTACCAATGTC , CM000678.2:g.70484152_70484166delinsGGGGGTACCAATGTC	GRCh38
NC_000016.9:g.70518055_70518069delinsGGGGGTACCAATGTC , CM000678.1:g.70518055_70518069delinsGGGGGTACCAATGTC	GRCh37
NC_000016.8:g.69075556_69075570delinsGGGGGTACCAATGTC	NCBI36
NG_027529.1:g.44389_44403delinsGACATTGGTACCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1787-197_*1787-183delinsGACATTGGTACCCCC	ENSP00000461912.2:n.*1787-197_*1787-183delinsGACATTGGTACCCCC
ENST00000703106.1:c.1660-101_1660-87delinsGACATTGGTACCCCC	ENSP00000515173.1:n.1660-101_1660-87delinsGACATTGGTACCCCC
ENST00000703107.1:c.*1640-197_*1640-183delinsGACATTGGTACCCCC	ENSP00000515174.1:n.*1640-197_*1640-183delinsGACATTGGTACCCCC
ENST00000703108.1:c.*159-197_*159-183delinsGACATTGGTACCCCC	ENSP00000515175.1:n.*159-197_*159-183delinsGACATTGGTACCCCC
ENST00000703109.1:c.1744-197_1744-183delinsGACATTGGTACCCCC	ENSP00000515176.1:n.1744-197_1744-183delinsGACATTGGTACCCCC
ENST00000703110.1:c.*1213-197_*1213-183delinsGACATTGGTACCCCC	ENSP00000515177.1:n.*1213-197_*1213-183delinsGACATTGGTACCCCC
ENST00000703111.1:n.1718-197_1718-183delinsGACATTGGTACCCCC
ENST00000703112.1:n.2484-197_2484-183delinsGACATTGGTACCCCC
ENST00000703113.1:c.*1124-197_*1124-183delinsGACATTGGTACCCCC	ENSP00000515178.1:n.*1124-197_*1124-183delinsGACATTGGTACCCCC
ENST00000703114.1:c.*360-197_*360-183delinsGACATTGGTACCCCC	ENSP00000515179.1:n.*360-197_*360-183delinsGACATTGGTACCCCC
ENST00000703115.1:c.824-197_824-183delinsGACATTGGTACCCCC	ENSP00000515180.1:n.824-197_824-183delinsGACATTGGTACCCCC
ENST00000323786.10:c.1711-197_1711-183delinsGACATTGGTACCCCC MANE Select	ENSP00000315775.5:n.1711-197_1711-183delinsGACATTGGTACCCCC
ENST00000564415.6:c.*1491-197_*1491-183delinsGACATTGGTACCCCC	ENSP00000456653.2:n.*1491-197_*1491-183delinsGACATTGGTACCCCC
ENST00000674443.1:c.1636-197_1636-183delinsGACATTGGTACCCCC	ENSP00000501405.1:n.1636-197_1636-183delinsGACATTGGTACCCCC
ENST00000323786.9:c.1711-197_1711-183delinsGACATTGGTACCCCC	ENSP00000315775.5:n.1711-197_1711-183delinsGACATTGGTACCCCC
ENST00000393612.8:c.1648-197_1648-183delinsGACATTGGTACCCCC	ENSP00000377236.5:n.1648-197_1648-183delinsGACATTGGTACCCCC
ENST00000482252.5:c.1858-197_1858-183delinsGACATTGGTACCCCC	ENSP00000432802.1:n.1858-197_1858-183delinsGACATTGGTACCCCC
ENST00000526700.5:n.887-197_887-183delinsGACATTGGTACCCCC
ENST00000530314.5:n.2390-197_2390-183delinsGACATTGGTACCCCC
ENST00000564315.1:n.171-197_171-183delinsGACATTGGTACCCCC
ENST00000564415.5:c.*1491-197_*1491-183delinsGACATTGGTACCCCC	ENSP00000456653.1:n.*1491-197_*1491-183delinsGACATTGGTACCCCC
NM_001195139.1:c.1648-197_1648-183delinsGACATTGGTACCCCC	NP_001182068.1:n.1648-197_1648-183delinsGACATTGGTACCCCC
NM_015386.2:c.1711-197_1711-183delinsGACATTGGTACCCCC	NP_056201.2:n.1711-197_1711-183delinsGACATTGGTACCCCC
XM_011522981.1:c.1285-197_1285-183delinsGACATTGGTACCCCC	XP_011521283.1:n.1285-197_1285-183delinsGACATTGGTACCCCC
XR_933266.1:n.1657-197_1657-183delinsGACATTGGTACCCCC
XR_933267.1:n.1657-197_1657-183delinsGACATTGGTACCCCC
XM_011522981.3:c.1285-197_1285-183delinsGACATTGGTACCCCC	XP_011521283.1:n.1285-197_1285-183delinsGACATTGGTACCCCC
XM_024450224.1:c.730-197_730-183delinsGACATTGGTACCCCC	XP_024305992.1:n.730-197_730-183delinsGACATTGGTACCCCC
XR_001751889.1:n.1594-197_1594-183delinsGACATTGGTACCCCC
XR_933266.2:n.1657-197_1657-183delinsGACATTGGTACCCCC
NM_015386.3:c.1711-197_1711-183delinsGACATTGGTACCCCC MANE Select	NP_056201.2:n.1711-197_1711-183delinsGACATTGGTACCCCC
NM_001195139.2:c.1636-197_1636-183delinsGACATTGGTACCCCC	NP_001182068.2:n.1636-197_1636-183delinsGACATTGGTACCCCC
NM_001365426.1:c.1285-197_1285-183delinsGACATTGGTACCCCC	NP_001352355.1:n.1285-197_1285-183delinsGACATTGGTACCCCC
NR_158212.1:n.1670-197_1670-183delinsGACATTGGTACCCCC