Canonical Allele Identifier: CA2230762869

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483870_70483871delinsAT , CM000678.2:g.70483870_70483871delinsAT	GRCh38
NC_000016.9:g.70517773_70517774delinsAT , CM000678.1:g.70517773_70517774delinsAT	GRCh37
NC_000016.8:g.69075274_69075275delinsAT	NCBI36
NG_027529.1:g.44684_44685delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1885_*1886delinsAT	ENSP00000461912.2:n.*1885_*1886delinsAT
ENST00000703106.1:c.1854_1855delinsAT	ENSP00000515173.1:n.1854_1855delinsAT
ENST00000703107.1:c.*1738_*1739delinsAT	ENSP00000515174.1:n.*1738_*1739delinsAT
ENST00000703108.1:c.*257_*258delinsAT	ENSP00000515175.1:n.*257_*258delinsAT
ENST00000703109.1:c.1842_1843delinsAT	ENSP00000515176.1:p.Lys614=
ENST00000703110.1:c.*1311_*1312delinsAT	ENSP00000515177.1:n.*1311_*1312delinsAT
ENST00000703111.1:n.1816_1817delinsAT
ENST00000703112.1:n.2582_2583delinsAT
ENST00000703113.1:c.*1222_*1223delinsAT	ENSP00000515178.1:n.*1222_*1223delinsAT
ENST00000703114.1:c.*458_*459delinsAT	ENSP00000515179.1:n.*458_*459delinsAT
ENST00000703115.1:c.922_923delinsAT	ENSP00000515180.1:n.922_923delinsAT
ENST00000323786.10:c.1809_1810delinsAT MANE Select	ENSP00000315775.5:p.Lys603=
ENST00000564415.6:c.*1589_*1590delinsAT	ENSP00000456653.2:n.*1589_*1590delinsAT
ENST00000674443.1:c.1734_1735delinsAT	ENSP00000501405.1:p.Lys578=
ENST00000323786.9:c.1809_1810delinsAT	ENSP00000315775.5:p.Lys603=
ENST00000393612.8:c.1746_1747delinsAT	ENSP00000377236.5:p.Lys582=
ENST00000482252.5:c.1956_1957delinsAT	ENSP00000432802.1:n.1956_1957delinsAT
ENST00000526700.5:n.985_986delinsAT
ENST00000530314.5:n.2488_2489delinsAT
ENST00000564315.1:n.269_270delinsAT
ENST00000564415.5:c.*1589_*1590delinsAT	ENSP00000456653.1:n.*1589_*1590delinsAT
NM_001195139.1:c.1746_1747delinsAT	NP_001182068.1:p.Lys582=
NM_015386.2:c.1809_1810delinsAT	NP_056201.2:p.Lys603=
XM_011522981.1:c.1383_1384delinsAT	XP_011521283.1:p.Lys461=
XR_933266.1:n.1755_1756delinsAT
XR_933267.1:n.1755_1756delinsAT
XM_011522981.3:c.1383_1384delinsAT	XP_011521283.1:p.Lys461=
XM_024450224.1:c.828_829delinsAT	XP_024305992.1:p.Lys276=
XR_001751889.1:n.1692_1693delinsAT
XR_933266.2:n.1755_1756delinsAT
NM_015386.3:c.1809_1810delinsAT MANE Select	NP_056201.2:p.Lys603=
NM_001195139.2:c.1734_1735delinsAT	NP_001182068.2:p.Lys578=
NM_001365426.1:c.1383_1384delinsAT	NP_001352355.1:p.Lys461=
NR_158212.1:n.1768_1769delinsAT