Canonical Allele Identifier: CA2497030014
Community Standard Title: NM_006565.4(CTCF):c.804_805del (p.Cys268Ter)
Gene: CTCF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67611973_67611974del , CM000678.2:g.67611973_67611974del GRCh38
NC_000016.9:g.67645876_67645877del , CM000678.1:g.67645876_67645877del GRCh37
NC_000016.8:g.66203377_66203378del NCBI36
NG_033892.1:g.54567_54568del

Transcript Alleles

HGVS Amino-acid Change
NM_006565.4:c.804_805del MANE Select NP_006556.1:p.Cys268Ter
ENST00000264010.10:c.804_805del MANE Select ENSP00000264010.4:p.Cys268Ter
NM_001191022.1:c.-32-4772_-32-4771del NP_001177951.1:n.-32-4772_-32-4771del
NM_001191022.2:c.-32-4772_-32-4771del NP_001177951.1:n.-32-4772_-32-4771del
NM_001363916.1:c.804_805del NP_001350845.1:p.Cys268Ter
NM_006565.3:c.804_805del NP_006556.1:p.Cys268Ter
ENST00000264010.8:c.804_805del ENSP00000264010.4:p.Cys268Ter
ENST00000401394.5:c.-32-4772_-32-4771del ENSP00000384707.1:n.-32-4772_-32-4771del
ENST00000401394.6:c.-32-4772_-32-4771del ENSP00000384707.1:n.-32-4772_-32-4771del
ENST00000566078.1:n.1454_1455del
ENST00000566078.2:n.810_811del
ENST00000642819.1:c.804_805del ENSP00000494408.1:p.Cys268Ter
ENST00000643892.1:c.804_805del ENSP00000494358.1:p.Cys268Ter
ENST00000644753.1:c.804_805del ENSP00000493495.1:p.Cys268Ter
ENST00000645306.1:c.804_805del ENSP00000495218.1:p.Cys268Ter
ENST00000645699.1:c.804_805del ENSP00000495348.1:p.Cys268Ter
ENST00000646076.1:c.804_805del ENSP00000494538.1:p.Cys268Ter
ENST00000646771.1:c.804_805del ENSP00000494443.1:p.Cys268Ter
XM_005255775.2:c.804_805del XP_005255832.1:p.Cys268Ter
XM_005255775.4:c.804_805del XP_005255832.1:p.Cys268Ter
XM_017022868.1:c.804_805del XP_016878357.1:p.Cys268Ter