Canonical Allele Identifier: CA564959520

Gene: CNOT6

Linked Data

• dbSNP Id: rs1189831000
• gnomAD v2: 5-180005322-CAT-C
• gnomAD v3: 5-180578322-CAT-C
• gnomAD v4: 5-180578322-CAT-C
• MyVariant Identifiers: chr5:g.180005323_180005324del (hg19) ; chr5:g.180578323_180578324del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.180578325_180578326del , CM000667.2:g.180578325_180578326del	GRCh38
NC_000005.9:g.180005325_180005326del , CM000667.1:g.180005325_180005326del	GRCh37
NC_000005.8:g.179937931_179937932del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000261951.9:c.*4125_*4126del MANE Select	ENSP00000261951.4:n.*4125_*4126del
ENST00000393356.7:c.*4125_*4126del	ENSP00000377024.1:n.*4125_*4126del
ENST00000261951.8:c.*4125_*4126del	ENSP00000261951.4:n.*4125_*4126del
ENST00000393356.5:c.*4125_*4126del	ENSP00000377024.1:n.*4125_*4126del
ENST00000618123.4:c.*4125_*4126del	ENSP00000481893.1:n.*4125_*4126del
NM_001303241.1:c.*4125_*4126del	NP_001290170.1:n.*4125_*4126del
XM_005265953.1:c.*4125_*4126del	XP_005266010.1:n.*4125_*4126del
XM_011534605.1:c.*4125_*4126del	XP_011532907.1:n.*4125_*4126del
XM_011534606.1:c.*4125_*4126del	XP_011532908.1:n.*4125_*4126del
XM_011534607.1:c.*4125_*4126del	XP_011532909.1:n.*4125_*4126del
XM_011534608.1:c.*4309_*4310del	XP_011532910.1:n.*4309_*4310del
XM_017009672.1:c.*4309_*4310del	XP_016865161.1:n.*4309_*4310del
XR_001742163.1:n.6010_6011del
XR_001742164.1:n.5995_5996del
NM_001303241.2:c.*4125_*4126del	NP_001290170.1:n.*4125_*4126del
NM_001370472.1:c.*4125_*4126del MANE Select	NP_001357401.1:n.*4125_*4126del
NM_001370473.1:c.*4125_*4126del	NP_001357402.1:n.*4125_*4126del
NM_001370474.1:c.*4125_*4126del	NP_001357403.1:n.*4125_*4126del
NR_163437.1:n.6290_6291del
NR_163438.1:n.6031_6032del