Canonical Allele Identifier: CA2573149635

Gene: COG6

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39659462del , CM000675.2:g.39659462del	GRCh38
NC_000013.10:g.40233599del , CM000675.1:g.40233599del	GRCh37
NC_000013.9:g.39131599del	NCBI36
NG_028352.1:g.8836del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455146.8:c.252del MANE Select	ENSP00000397441.2:p.Ala85ProfsTer7
ENST00000356576.8:c.*89del	ENSP00000348983.4:n.*89del
ENST00000416691.5:c.252del	ENSP00000403733.1:p.Ala85ProfsTer7
ENST00000422759.6:n.317del
ENST00000455146.7:c.252del	ENSP00000397441.2:p.Ala85ProfsTer7
ENST00000536488.5:c.67del
ENST00000542266.5:c.*225del	ENSP00000441297.1:n.*225del
ENST00000543790.5:c.*290del	ENSP00000440438.1:n.*290del
ENST00000543804.5:c.*13del	ENSP00000440473.1:n.*13del
NM_001145079.1:c.252del	NP_001138551.1:p.Ala85ProfsTer7
NM_020751.2:c.252del	NP_065802.1:p.Ala85ProfsTer7
NR_026745.1:n.417del
XM_011535168.1:c.252del	XP_011533470.1:p.Ala85ProfsTer7
XM_011535169.1:c.96del	XP_011533471.1:p.Ala33ProfsTer7
XM_011535170.1:c.96del	XP_011533472.1:p.Ala33ProfsTer7
NM_020751.3:c.252del MANE Select	NP_065802.1:p.Ala85ProfsTer7
NM_001145079.2:c.252del	NP_001138551.1:p.Ala85ProfsTer7