Canonical Allele Identifier: CA8133597

Gene: COG8

Linked Data

• ClinVar Variation Id: 422264
• ClinVar RCV Id: RCV000478329
• dbSNP Id: rs750410882
• ExAC: 16:69364729 CAG / C
• gnomAD v2: 16-69364729-CAG-C
• gnomAD v3: 16-69330826-CAG-C
• gnomAD v4: 16-69330826-CAG-C
• MyVariant Identifiers: chr16:g.69364730_69364731del (hg19) ; chr16:g.69330827_69330828del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.69330827_69330828del , CM000678.2:g.69330827_69330828del	GRCh38
NC_000016.9:g.69364730_69364731del , CM000678.1:g.69364730_69364731del	GRCh37
NC_000016.8:g.67922231_67922232del	NCBI36
NG_009013.1:g.13796_13797del
NG_033043.1:g.4768_4769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306875.10:c.*11_*12del MANE Select	ENSP00000305459.6:n.*11_*12del
ENST00000306875.8:c.*11_*12del	ENSP00000305459.4:n.*11_*12del
ENST00000562595.5:c.549+4498_549+4499del
ENST00000562949.1:c.352-1649_352-1648del	ENSP00000457718.1:n.352-1649_352-1648del
NM_032382.4:c.*11_*12del	NP_115758.3:n.*11_*12del
NM_032382.5:c.*11_*12del MANE Select	NP_115758.3:n.*11_*12del
NM_001379261.1:c.*11_*12del	NP_001366190.1:n.*11_*12del
NM_001379262.1:c.1759+91_1759+92del	NP_001366191.1:n.1759+91_1759+92del
NM_001379263.1:c.*11_*12del	NP_001366192.1:n.*11_*12del
NM_001379264.1:c.*11_*12del	NP_001366193.1:n.*11_*12del
NM_001379265.1:c.1583-1649_1583-1648del	NP_001366194.1:n.1583-1649_1583-1648del
NM_001379266.1:c.1414-1649_1414-1648del	NP_001366195.1:n.1414-1649_1414-1648del