Canonical Allele Identifier: CA2576374977

Gene: COG1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73196409del , CM000679.2:g.73196409del	GRCh38
NC_000017.10:g.71192548del , CM000679.1:g.71192548del	GRCh37
NC_000017.9:g.68704143del	NCBI36
NG_008971.1:g.8376del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299886.9:c.316-98del MANE Select	ENSP00000299886.4:n.316-98del
ENST00000299886.8:c.316-98del	ENSP00000299886.4:n.316-98del
ENST00000438720.7:c.314-98del
ENST00000582587.2:c.293-78del
ENST00000618996.4:c.316-98del	ENSP00000479450.1:n.316-98del
NM_018714.2:c.316-98del	NP_061184.1:n.316-98del
NM_018714.3:c.316-98del MANE Select	NP_061184.1:n.316-98del