Canonical Allele Identifier: CA2230762890

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483894_70483896delinsCAG , CM000678.2:g.70483894_70483896delinsCAG	GRCh38
NC_000016.9:g.70517797_70517799delinsCAG , CM000678.1:g.70517797_70517799delinsCAG	GRCh37
NC_000016.8:g.69075298_69075300delinsCAG	NCBI36
NG_027529.1:g.44659_44661delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1860_*1862delinsCTG	ENSP00000461912.2:n.*1860_*1862delinsCTG
ENST00000703106.1:c.1829_1831delinsCTG	ENSP00000515173.1:n.1829_1831delinsCTG
ENST00000703107.1:c.*1713_*1715delinsCTG	ENSP00000515174.1:n.*1713_*1715delinsCTG
ENST00000703108.1:c.*232_*234delinsCTG	ENSP00000515175.1:n.*232_*234delinsCTG
ENST00000703109.1:c.1817_1819delinsCTG	ENSP00000515176.1:p.Ser606=
ENST00000703110.1:c.*1286_*1288delinsCTG	ENSP00000515177.1:n.*1286_*1288delinsCTG
ENST00000703111.1:n.1791_1793delinsCTG
ENST00000703112.1:n.2557_2559delinsCTG
ENST00000703113.1:c.*1197_*1199delinsCTG	ENSP00000515178.1:n.*1197_*1199delinsCTG
ENST00000703114.1:c.*433_*435delinsCTG	ENSP00000515179.1:n.*433_*435delinsCTG
ENST00000703115.1:c.897_899delinsCTG	ENSP00000515180.1:n.897_899delinsCTG
ENST00000323786.10:c.1784_1786delinsCTG MANE Select	ENSP00000315775.5:p.Ser595=
ENST00000564415.6:c.*1564_*1566delinsCTG	ENSP00000456653.2:n.*1564_*1566delinsCTG
ENST00000674443.1:c.1709_1711delinsCTG	ENSP00000501405.1:p.Ser570=
ENST00000323786.9:c.1784_1786delinsCTG	ENSP00000315775.5:p.Ser595=
ENST00000393612.8:c.1721_1723delinsCTG	ENSP00000377236.5:p.Ser574=
ENST00000482252.5:c.1931_1933delinsCTG	ENSP00000432802.1:n.1931_1933delinsCTG
ENST00000526700.5:n.960_962delinsCTG
ENST00000530314.5:n.2463_2465delinsCTG
ENST00000564315.1:n.244_246delinsCTG
ENST00000564415.5:c.*1564_*1566delinsCTG	ENSP00000456653.1:n.*1564_*1566delinsCTG
NM_001195139.1:c.1721_1723delinsCTG	NP_001182068.1:p.Ser574=
NM_015386.2:c.1784_1786delinsCTG	NP_056201.2:p.Ser595=
XM_011522981.1:c.1358_1360delinsCTG	XP_011521283.1:p.Ser453=
XR_933266.1:n.1730_1732delinsCTG
XR_933267.1:n.1730_1732delinsCTG
XM_011522981.3:c.1358_1360delinsCTG	XP_011521283.1:p.Ser453=
XM_024450224.1:c.803_805delinsCTG	XP_024305992.1:p.Ser268=
XR_001751889.1:n.1667_1669delinsCTG
XR_933266.2:n.1730_1732delinsCTG
NM_015386.3:c.1784_1786delinsCTG MANE Select	NP_056201.2:p.Ser595=
NM_001195139.2:c.1709_1711delinsCTG	NP_001182068.2:p.Ser570=
NM_001365426.1:c.1358_1360delinsCTG	NP_001352355.1:p.Ser453=
NR_158212.1:n.1743_1745delinsCTG