Canonical Allele Identifier: CA1139665866
Gene: COG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 968435
ClinVar RCV Id: RCV001243565 RCV002564067
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196733_73196734delinsTG , CM000679.2:g.73196733_73196734delinsTG GRCh38
NC_000017.10:g.71192872_71192873delinsTG , CM000679.1:g.71192872_71192873delinsTG GRCh37
NC_000017.9:g.68704467_68704468delinsTG NCBI36
NG_008971.1:g.8700_8701delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.542_543delinsTG MANE Select ENSP00000299886.4:p.Ala181Val
ENST00000299886.8:c.542_543delinsTG ENSP00000299886.4:p.Ala181Val
ENST00000438720.7:c.540_541delinsTG
ENST00000582587.2:c.539_540delinsTG
ENST00000618996.4:c.542_543delinsTG ENSP00000479450.1:p.Ala181Val
NM_018714.2:c.542_543delinsTG NP_061184.1:p.Ala181Val
NM_018714.3:c.542_543delinsTG MANE Select NP_061184.1:p.Ala181Val
Search 100 bp 5'
Search 100 bp 3'