Canonical Allele Identifier: CA2274431929
Gene: COG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196523_73196525delinsAGG , CM000679.2:g.73196523_73196525delinsAGG GRCh38
NC_000017.10:g.71192662_71192664delinsAGG , CM000679.1:g.71192662_71192664delinsAGG GRCh37
NC_000017.9:g.68704257_68704259delinsAGG NCBI36
NG_008971.1:g.8490_8492delinsAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.332_334delinsAGG MANE Select ENSP00000299886.4:p.Gln111=
ENST00000299886.8:c.332_334delinsAGG ENSP00000299886.4:p.Gln111=
ENST00000438720.7:c.330_332delinsAGG
ENST00000582587.2:c.329_331delinsAGG
ENST00000618996.4:c.332_334delinsAGG ENSP00000479450.1:p.Gln111=
NM_018714.2:c.332_334delinsAGG NP_061184.1:p.Gln111=
NM_018714.3:c.332_334delinsAGG MANE Select NP_061184.1:p.Gln111=