Canonical Allele Identifier: CA919734557

Gene: COG4

Linked Data

• dbSNP Id: rs1567721600
• gnomAD v4: 16-70483894-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483896_70483897del , CM000678.2:g.70483896_70483897del	GRCh38
NC_000016.9:g.70517799_70517800del , CM000678.1:g.70517799_70517800del	GRCh37
NC_000016.8:g.69075300_69075301del	NCBI36
NG_027529.1:g.44659_44660del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1860_*1861del	ENSP00000461912.2:n.*1860_*1861del
ENST00000703106.1:c.1829_1830del	ENSP00000515173.1:n.1829_1830del
ENST00000703107.1:c.*1713_*1714del	ENSP00000515174.1:n.*1713_*1714del
ENST00000703108.1:c.*232_*233del	ENSP00000515175.1:n.*232_*233del
ENST00000703109.1:c.1817_1818del	ENSP00000515176.1:p.Ser606Ter
ENST00000703110.1:c.*1286_*1287del	ENSP00000515177.1:n.*1286_*1287del
ENST00000703111.1:n.1791_1792del
ENST00000703112.1:n.2557_2558del
ENST00000703113.1:c.*1197_*1198del	ENSP00000515178.1:n.*1197_*1198del
ENST00000703114.1:c.*433_*434del	ENSP00000515179.1:n.*433_*434del
ENST00000703115.1:c.897_898del	ENSP00000515180.1:n.897_898del
ENST00000323786.10:c.1784_1785del MANE Select	ENSP00000315775.5:p.Ser595Ter
ENST00000564415.6:c.*1564_*1565del	ENSP00000456653.2:n.*1564_*1565del
ENST00000674443.1:c.1709_1710del	ENSP00000501405.1:p.Ser570Ter
ENST00000323786.9:c.1784_1785del	ENSP00000315775.5:p.Ser595Ter
ENST00000393612.8:c.1721_1722del	ENSP00000377236.5:p.Ser574Ter
ENST00000482252.5:c.1931_1932del	ENSP00000432802.1:n.1931_1932del
ENST00000526700.5:n.960_961del
ENST00000530314.5:n.2463_2464del
ENST00000564315.1:n.244_245del
ENST00000564415.5:c.*1564_*1565del	ENSP00000456653.1:n.*1564_*1565del
NM_001195139.1:c.1721_1722del	NP_001182068.1:p.Ser574Ter
NM_015386.2:c.1784_1785del	NP_056201.2:p.Ser595Ter
XM_011522981.1:c.1358_1359del	XP_011521283.1:p.Ser453Ter
XR_933266.1:n.1730_1731del
XR_933267.1:n.1730_1731del
XM_011522981.3:c.1358_1359del	XP_011521283.1:p.Ser453Ter
XM_024450224.1:c.803_804del	XP_024305992.1:p.Ser268Ter
XR_001751889.1:n.1667_1668del
XR_933266.2:n.1730_1731del
NM_015386.3:c.1784_1785del MANE Select	NP_056201.2:p.Ser595Ter
NM_001195139.2:c.1709_1710del	NP_001182068.2:p.Ser570Ter
NM_001365426.1:c.1358_1359del	NP_001352355.1:p.Ser453Ter
NR_158212.1:n.1743_1744del