Canonical Allele Identifier: CA2086122712

Gene: COG6

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39776748_39776749delinsAT , CM000675.2:g.39776748_39776749delinsAT	GRCh38
NC_000013.10:g.40350885_40350886delinsAT , CM000675.1:g.40350885_40350886delinsAT	GRCh37
NC_000013.9:g.39248885_39248886delinsAT	NCBI36
NG_028352.1:g.126122_126123delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416691.5:c.1827-11587_1827-11586delinsAT	ENSP00000403733.1:n.1827-11587_1827-11586delinsAT
NM_001145079.1:c.1827-11587_1827-11586delinsAT	NP_001138551.1:n.1827-11587_1827-11586delinsAT
NM_001145079.2:c.1827-11587_1827-11586delinsAT	NP_001138551.1:n.1827-11587_1827-11586delinsAT