Canonical Allele Identifier: CA2274431835

Gene: COG1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73196298_73196300delinsCGT , CM000679.2:g.73196298_73196300delinsCGT	GRCh38
NC_000017.10:g.71192437_71192439delinsCGT , CM000679.1:g.71192437_71192439delinsCGT	GRCh37
NC_000017.9:g.68704032_68704034delinsCGT	NCBI36
NG_008971.1:g.8265_8267delinsCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299886.9:c.316-209_316-207delinsCGT MANE Select	ENSP00000299886.4:n.316-209_316-207delinsCGT
ENST00000299886.8:c.316-209_316-207delinsCGT	ENSP00000299886.4:n.316-209_316-207delinsCGT
ENST00000438720.7:c.314-209_314-207delinsCGT
ENST00000582587.2:c.293-189_293-187delinsCGT
ENST00000618996.4:c.316-209_316-207delinsCGT	ENSP00000479450.1:n.316-209_316-207delinsCGT
NM_018714.2:c.316-209_316-207delinsCGT	NP_061184.1:n.316-209_316-207delinsCGT
NM_018714.3:c.316-209_316-207delinsCGT MANE Select	NP_061184.1:n.316-209_316-207delinsCGT