Canonical Allele Identifier: CA2639622942
Gene: COG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196433_73196434insA , CM000679.2:g.73196433_73196434insA GRCh38
NC_000017.10:g.71192572_71192573insA , CM000679.1:g.71192572_71192573insA GRCh37
NC_000017.9:g.68704167_68704168insA NCBI36
NG_008971.1:g.8400_8401insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.316-74_316-73insA MANE Select ENSP00000299886.4:n.316-74_316-73insA
ENST00000299886.8:c.316-74_316-73insA ENSP00000299886.4:n.316-74_316-73insA
ENST00000438720.7:c.314-74_314-73insA
ENST00000582587.2:c.293-54_293-53insA
ENST00000618996.4:c.316-74_316-73insA ENSP00000479450.1:n.316-74_316-73insA
NM_018714.2:c.316-74_316-73insA NP_061184.1:n.316-74_316-73insA
NM_018714.3:c.316-74_316-73insA MANE Select NP_061184.1:n.316-74_316-73insA