Canonical Allele Identifier: CA623219058

Gene: COG4

Linked Data

• dbSNP Id: rs1351152811
• gnomAD v2: 16-70518189-TAA-T
• MyVariant Identifiers: chr16:g.70518190_70518191del (hg19) ; chr16:g.70484287_70484288del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70484288_70484289del , CM000678.2:g.70484288_70484289del	GRCh38
NC_000016.9:g.70518191_70518192del , CM000678.1:g.70518191_70518192del	GRCh37
NC_000016.8:g.69075692_69075693del	NCBI36
NG_027529.1:g.44267_44268del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1787-319_*1787-318del	ENSP00000461912.2:n.*1787-319_*1787-318del
ENST00000703106.1:c.1660-223_1660-222del	ENSP00000515173.1:n.1660-223_1660-222del
ENST00000703107.1:c.*1640-319_*1640-318del	ENSP00000515174.1:n.*1640-319_*1640-318del
ENST00000703108.1:c.*159-319_*159-318del	ENSP00000515175.1:n.*159-319_*159-318del
ENST00000703109.1:c.1744-319_1744-318del	ENSP00000515176.1:n.1744-319_1744-318del
ENST00000703110.1:c.*1213-319_*1213-318del	ENSP00000515177.1:n.*1213-319_*1213-318del
ENST00000703111.1:n.1718-319_1718-318del
ENST00000703112.1:n.2484-319_2484-318del
ENST00000703113.1:c.*1124-319_*1124-318del	ENSP00000515178.1:n.*1124-319_*1124-318del
ENST00000703114.1:c.*360-319_*360-318del	ENSP00000515179.1:n.*360-319_*360-318del
ENST00000703115.1:c.824-319_824-318del	ENSP00000515180.1:n.824-319_824-318del
ENST00000323786.10:c.1711-319_1711-318del MANE Select	ENSP00000315775.5:n.1711-319_1711-318del
ENST00000564415.6:c.*1491-319_*1491-318del	ENSP00000456653.2:n.*1491-319_*1491-318del
ENST00000674443.1:c.1636-319_1636-318del	ENSP00000501405.1:n.1636-319_1636-318del
ENST00000323786.9:c.1711-319_1711-318del	ENSP00000315775.5:n.1711-319_1711-318del
ENST00000393612.8:c.1648-319_1648-318del	ENSP00000377236.5:n.1648-319_1648-318del
ENST00000482252.5:c.1858-319_1858-318del	ENSP00000432802.1:n.1858-319_1858-318del
ENST00000526700.5:n.887-319_887-318del
ENST00000530314.5:n.2390-319_2390-318del
ENST00000564315.1:n.171-319_171-318del
ENST00000564415.5:c.*1491-319_*1491-318del	ENSP00000456653.1:n.*1491-319_*1491-318del
NM_001195139.1:c.1648-319_1648-318del	NP_001182068.1:n.1648-319_1648-318del
NM_015386.2:c.1711-319_1711-318del	NP_056201.2:n.1711-319_1711-318del
XM_011522981.1:c.1285-319_1285-318del	XP_011521283.1:n.1285-319_1285-318del
XR_933266.1:n.1657-319_1657-318del
XR_933267.1:n.1657-319_1657-318del
XM_011522981.3:c.1285-319_1285-318del	XP_011521283.1:n.1285-319_1285-318del
XM_024450224.1:c.730-319_730-318del	XP_024305992.1:n.730-319_730-318del
XR_001751889.1:n.1594-319_1594-318del
XR_933266.2:n.1657-319_1657-318del
NM_015386.3:c.1711-319_1711-318del MANE Select	NP_056201.2:n.1711-319_1711-318del
NM_001195139.2:c.1636-319_1636-318del	NP_001182068.2:n.1636-319_1636-318del
NM_001365426.1:c.1285-319_1285-318del	NP_001352355.1:n.1285-319_1285-318del
NR_158212.1:n.1670-319_1670-318del