Canonical Allele Identifier: CA6958761

Gene: COG6

Linked Data

• ClinVar Variation Id: 312147
• ClinVar RCV Id: RCV000316412 ; RCV000455817 ; RCV000550359
• dbSNP Id: rs1491507046
• ExAC: 13:40298637 TTA / T
• gnomAD v2: 13-40298637-TTA-T
• gnomAD v3: 13-39724500-TTA-T
• gnomAD v4: 13-39724500-TTA-T
• COSMIC: COSM3730300 ; COSM3730301
• MyVariant Identifiers: chr13:g.40298638_40298639del (hg19) ; chr13:g.39724501_39724502del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39724501_39724502del , CM000675.2:g.39724501_39724502del	GRCh38
NC_000013.10:g.40298638_40298639del , CM000675.1:g.40298638_40298639del	GRCh37
NC_000013.9:g.39196638_39196639del	NCBI36
NG_028352.1:g.73875_73876del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455146.8:c.1693-7_1693-6del MANE Select	ENSP00000397441.2:n.1693-7_1693-6del
ENST00000356576.8:c.*1530-7_*1530-6del	ENSP00000348983.4:n.*1530-7_*1530-6del
ENST00000416691.5:c.1693-7_1693-6del	ENSP00000403733.1:n.1693-7_1693-6del
ENST00000455146.7:c.1693-7_1693-6del	ENSP00000397441.2:n.1693-7_1693-6del
NM_001145079.1:c.1693-7_1693-6del	NP_001138551.1:n.1693-7_1693-6del
NM_020751.2:c.1693-7_1693-6del	NP_065802.1:n.1693-7_1693-6del
NR_026745.1:n.1858-7_1858-6del
XM_011535168.1:c.1693-7_1693-6del	XP_011533470.1:n.1693-7_1693-6del
XM_011535169.1:c.1537-7_1537-6del	XP_011533471.1:n.1537-7_1537-6del
XM_011535170.1:c.1537-7_1537-6del	XP_011533472.1:n.1537-7_1537-6del
NM_020751.3:c.1693-7_1693-6del MANE Select	NP_065802.1:n.1693-7_1693-6del
NM_001145079.2:c.1693-7_1693-6del	NP_001138551.1:n.1693-7_1693-6del