Canonical Allele Identifier: CA698012245

Gene: COG6

Linked Data

• dbSNP Id: rs1234686058
• gnomAD v3: 13-39776687-ACTG-A
• gnomAD v4: 13-39776687-ACTG-A
• MyVariant Identifiers: chr13:g.40350825_40350827del (hg19) ; chr13:g.39776688_39776690del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39776691_39776693del , CM000675.2:g.39776691_39776693del	GRCh38
NC_000013.10:g.40350828_40350830del , CM000675.1:g.40350828_40350830del	GRCh37
NC_000013.9:g.39248828_39248830del	NCBI36
NG_028352.1:g.126065_126067del

Transcript Alleles

HGVS	Amino-acid change
ENST00000416691.5:c.1827-11644_1827-11642del	ENSP00000403733.1:n.1827-11644_1827-11642...
NM_001145079.1:c.1827-11644_1827-11642del	NP_001138551.1:n.1827-11644_1827-11642del...
NM_001145079.2:c.1827-11644_1827-11642del	NP_001138551.1:n.1827-11644_1827-11642del...