Canonical Allele Identifier: CA16620220
Gene: CTCF HGNC NCBI

Linked Data

ClinVar Variation Id: 422876
ClinVar RCV Id: RCV000485210
dbSNP Id: rs1064796062

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67629510del , CM000678.2:g.67629510del GRCh38
NC_000016.9:g.67663413del , CM000678.1:g.67663413del GRCh37
NC_000016.8:g.66220914del NCBI36
NG_033892.1:g.72104del

Transcript Alleles

HGVS Amino-acid change
ENST00000264010.10:c.1814del MANE Select ENSP00000264010.4:p.Lys605ArgfsTer26
ENST00000401394.6:c.830del ENSP00000384707.1:p.Lys277ArgfsTer26
ENST00000642420.1:n.503del
ENST00000642819.1:c.1814del ENSP00000494408.1:p.Lys605ArgfsTer26
ENST00000643892.1:c.1814del ENSP00000494358.1:p.Lys605ArgfsTer?
ENST00000644753.1:c.1814del ENSP00000493495.1:p.Lys605ArgfsTer26
ENST00000644950.1:n.1162del
ENST00000645306.1:c.1814del ENSP00000495218.1:p.Lys605ArgfsTer26
ENST00000645409.1:n.2734del
ENST00000645699.1:c.1814del ENSP00000495348.1:p.Lys605ArgfsTer26
ENST00000646076.1:c.1814del ENSP00000494538.1:p.Lys605ArgfsTer26
ENST00000646566.1:n.2298del
ENST00000646771.1:c.1814del ENSP00000494443.1:p.Lys605ArgfsTer26
ENST00000264010.8:c.1814del ENSP00000264010.4:p.Lys605ArgfsTer26
ENST00000401394.5:c.830del ENSP00000384707.1:p.Lys277ArgfsTer26
NM_001191022.1:c.830del NP_001177951.1:p.Lys277ArgfsTer26
NM_006565.3:c.1814del NP_006556.1:p.Lys605ArgfsTer26
XM_005255775.2:c.1814del XP_005255832.1:p.Lys605ArgfsTer26
NM_001363916.1:c.1814del NP_001350845.1:p.Lys605ArgfsTer26
XM_005255775.4:c.1814del XP_005255832.1:p.Lys605ArgfsTer26
XM_017022868.1:c.1814del XP_016878357.1:p.Lys605ArgfsTer26
NM_006565.4:c.1814del MANE Select NP_006556.1:p.Lys605ArgfsTer26
NM_001191022.2:c.830del NP_001177951.1:p.Lys277ArgfsTer26