Canonical Allele Identifier: CA2086122662

Gene: COG6

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39776649_39776652delinsGAAA , CM000675.2:g.39776649_39776652delinsGAAA	GRCh38
NC_000013.10:g.40350786_40350789delinsGAAA , CM000675.1:g.40350786_40350789delinsGAAA	GRCh37
NC_000013.9:g.39248786_39248789delinsGAAA	NCBI36
NG_028352.1:g.126023_126026delinsGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416691.5:c.1827-11686_1827-11683delinsGAAA	ENSP00000403733.1:n.1827-11686_1827-11683delinsGAAA
NM_001145079.1:c.1827-11686_1827-11683delinsGAAA	NP_001138551.1:n.1827-11686_1827-11683delinsGAAA
NM_001145079.2:c.1827-11686_1827-11683delinsGAAA	NP_001138551.1:n.1827-11686_1827-11683delinsGAAA