Canonical Allele Identifier: CA2622752787

Gene: COG6

Linked Data

• gnomAD v4: 13-39699418-ATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39699419_39699420del , CM000675.2:g.39699419_39699420del	GRCh38
NC_000013.10:g.40273556_40273557del , CM000675.1:g.40273556_40273557del	GRCh37
NC_000013.9:g.39171556_39171557del	NCBI36
NG_028352.1:g.48793_48794del

Transcript Alleles

HGVS	Amino-acid change
ENST00000455146.8:c.1167-82_1167-81del MANE Select	ENSP00000397441.2:n.1167-82_1167-81del
ENST00000356576.8:c.*1004-82_*1004-81del	ENSP00000348983.4:n.*1004-82_*1004-81del
ENST00000416691.5:c.1167-82_1167-81del	ENSP00000403733.1:n.1167-82_1167-81del
ENST00000455146.7:c.1167-82_1167-81del	ENSP00000397441.2:n.1167-82_1167-81del
NM_001145079.1:c.1167-82_1167-81del	NP_001138551.1:n.1167-82_1167-81del
NM_020751.2:c.1167-82_1167-81del	NP_065802.1:n.1167-82_1167-81del
NR_026745.1:n.1332-82_1332-81del
XM_011535168.1:c.1167-82_1167-81del	XP_011533470.1:n.1167-82_1167-81del
XM_011535169.1:c.1011-82_1011-81del	XP_011533471.1:n.1011-82_1011-81del
XM_011535170.1:c.1011-82_1011-81del	XP_011533472.1:n.1011-82_1011-81del
NM_020751.3:c.1167-82_1167-81del MANE Select	NP_065802.1:n.1167-82_1167-81del
NM_001145079.2:c.1167-82_1167-81del	NP_001138551.1:n.1167-82_1167-81del