Canonical Allele Identifier: CA2274431851

Gene: COG1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73196337_73196339delinsACT , CM000679.2:g.73196337_73196339delinsACT	GRCh38
NC_000017.10:g.71192476_71192478delinsACT , CM000679.1:g.71192476_71192478delinsACT	GRCh37
NC_000017.9:g.68704071_68704073delinsACT	NCBI36
NG_008971.1:g.8304_8306delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299886.9:c.316-170_316-168delinsACT MANE Select	ENSP00000299886.4:n.316-170_316-168delinsACT
ENST00000299886.8:c.316-170_316-168delinsACT	ENSP00000299886.4:n.316-170_316-168delinsACT
ENST00000438720.7:c.314-170_314-168delinsACT
ENST00000582587.2:c.293-150_293-148delinsACT
ENST00000618996.4:c.316-170_316-168delinsACT	ENSP00000479450.1:n.316-170_316-168delinsACT
NM_018714.2:c.316-170_316-168delinsACT	NP_061184.1:n.316-170_316-168delinsACT
NM_018714.3:c.316-170_316-168delinsACT MANE Select	NP_061184.1:n.316-170_316-168delinsACT