Canonical Allele Identifier: CA2525811614

Gene: COG1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73196477_73196479del , CM000679.2:g.73196477_73196479del	GRCh38
NC_000017.10:g.71192616_71192618del , CM000679.1:g.71192616_71192618del	GRCh37
NC_000017.9:g.68704211_68704213del	NCBI36
NG_008971.1:g.8444_8446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299886.9:c.316-30_316-28del MANE Select	ENSP00000299886.4:n.316-30_316-28del
ENST00000299886.8:c.316-30_316-28del	ENSP00000299886.4:n.316-30_316-28del
ENST00000438720.7:c.314-30_314-28del
ENST00000582587.2:c.293-10_293-8del
ENST00000618996.4:c.316-30_316-28del	ENSP00000479450.1:n.316-30_316-28del
NM_018714.2:c.316-30_316-28del	NP_061184.1:n.316-30_316-28del
NM_018714.3:c.316-30_316-28del MANE Select	NP_061184.1:n.316-30_316-28del