Canonical Allele Identifier: CA2230763099

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70484074_70484075delinsAG , CM000678.2:g.70484074_70484075delinsAG	GRCh38
NC_000016.9:g.70517977_70517978delinsAG , CM000678.1:g.70517977_70517978delinsAG	GRCh37
NC_000016.8:g.69075478_69075479delinsAG	NCBI36
NG_027529.1:g.44480_44481delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1787-106_*1787-105delinsCT	ENSP00000461912.2:n.*1787-106_*1787-105delinsCT
ENST00000703106.1:c.1660-10_1660-9delinsCT	ENSP00000515173.1:n.1660-10_1660-9delinsCT
ENST00000703107.1:c.*1640-106_*1640-105delinsCT	ENSP00000515174.1:n.*1640-106_*1640-105delinsCT
ENST00000703108.1:c.*159-106_*159-105delinsCT	ENSP00000515175.1:n.*159-106_*159-105delinsCT
ENST00000703109.1:c.1744-106_1744-105delinsCT	ENSP00000515176.1:n.1744-106_1744-105delinsCT
ENST00000703110.1:c.*1213-106_*1213-105delinsCT	ENSP00000515177.1:n.*1213-106_*1213-105delinsCT
ENST00000703111.1:n.1718-106_1718-105delinsCT
ENST00000703112.1:n.2484-106_2484-105delinsCT
ENST00000703113.1:c.*1124-106_*1124-105delinsCT	ENSP00000515178.1:n.*1124-106_*1124-105delinsCT
ENST00000703114.1:c.*360-106_*360-105delinsCT	ENSP00000515179.1:n.*360-106_*360-105delinsCT
ENST00000703115.1:c.824-106_824-105delinsCT	ENSP00000515180.1:n.824-106_824-105delinsCT
ENST00000323786.10:c.1711-106_1711-105delinsCT MANE Select	ENSP00000315775.5:n.1711-106_1711-105delinsCT
ENST00000564415.6:c.*1491-106_*1491-105delinsCT	ENSP00000456653.2:n.*1491-106_*1491-105delinsCT
ENST00000674443.1:c.1636-106_1636-105delinsCT	ENSP00000501405.1:n.1636-106_1636-105delinsCT
ENST00000323786.9:c.1711-106_1711-105delinsCT	ENSP00000315775.5:n.1711-106_1711-105delinsCT
ENST00000393612.8:c.1648-106_1648-105delinsCT	ENSP00000377236.5:n.1648-106_1648-105delinsCT
ENST00000482252.5:c.1858-106_1858-105delinsCT	ENSP00000432802.1:n.1858-106_1858-105delinsCT
ENST00000526700.5:n.887-106_887-105delinsCT
ENST00000530314.5:n.2390-106_2390-105delinsCT
ENST00000564315.1:n.171-106_171-105delinsCT
ENST00000564415.5:c.*1491-106_*1491-105delinsCT	ENSP00000456653.1:n.*1491-106_*1491-105delinsCT
NM_001195139.1:c.1648-106_1648-105delinsCT	NP_001182068.1:n.1648-106_1648-105delinsCT
NM_015386.2:c.1711-106_1711-105delinsCT	NP_056201.2:n.1711-106_1711-105delinsCT
XM_011522981.1:c.1285-106_1285-105delinsCT	XP_011521283.1:n.1285-106_1285-105delinsCT
XR_933266.1:n.1657-106_1657-105delinsCT
XR_933267.1:n.1657-106_1657-105delinsCT
XM_011522981.3:c.1285-106_1285-105delinsCT	XP_011521283.1:n.1285-106_1285-105delinsCT
XM_024450224.1:c.730-106_730-105delinsCT	XP_024305992.1:n.730-106_730-105delinsCT
XR_001751889.1:n.1594-106_1594-105delinsCT
XR_933266.2:n.1657-106_1657-105delinsCT
NM_015386.3:c.1711-106_1711-105delinsCT MANE Select	NP_056201.2:n.1711-106_1711-105delinsCT
NM_001195139.2:c.1636-106_1636-105delinsCT	NP_001182068.2:n.1636-106_1636-105delinsCT
NM_001365426.1:c.1285-106_1285-105delinsCT	NP_001352355.1:n.1285-106_1285-105delinsCT
NR_158212.1:n.1670-106_1670-105delinsCT