Canonical Allele Identifier: CA2573054255
Community Standard Title: NM_006565.4(CTCF):c.2070_2072del (p.Glu691del)
Gene: CTCF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67637758_67637760del , CM000678.2:g.67637758_67637760del GRCh38
NC_000016.9:g.67671661_67671663del , CM000678.1:g.67671661_67671663del GRCh37
NC_000016.8:g.66229162_66229164del NCBI36
NG_033892.1:g.80352_80354del

Transcript Alleles

HGVS Amino-acid Change
NM_006565.4:c.2070_2072del MANE Select NP_006556.1:p.Glu691del
ENST00000264010.10:c.2070_2072del MANE Select ENSP00000264010.4:p.Glu691del
NM_001191022.1:c.1086_1088del NP_001177951.1:p.Glu363del
NM_001191022.2:c.1086_1088del NP_001177951.1:p.Glu363del
NM_001363916.1:c.2064_2066del NP_001350845.1:p.Glu689del
NM_006565.3:c.2070_2072del NP_006556.1:p.Glu691del
ENST00000264010.8:c.2070_2072del ENSP00000264010.4:p.Glu691del
ENST00000401394.5:c.1086_1088del ENSP00000384707.1:p.Glu363del
ENST00000401394.6:c.1086_1088del ENSP00000384707.1:p.Glu363del
ENST00000642420.1:n.759_761del
ENST00000642819.1:c.2070_2072del ENSP00000494408.1:p.Glu691del
ENST00000643892.1:c.*271_*273del ENSP00000494358.1:n.*271_*273del
ENST00000644753.1:c.2070_2072del ENSP00000493495.1:p.Glu691del
ENST00000644950.1:n.1418_1420del
ENST00000645306.1:c.2064_2066del ENSP00000495218.1:p.Glu689del
ENST00000645409.1:n.2990_2992del
ENST00000645699.1:c.2070_2072del ENSP00000495348.1:p.Glu691del
ENST00000646076.1:c.2070_2072del ENSP00000494538.1:p.Glu691del
ENST00000646566.1:n.2548_2550del
ENST00000646771.1:c.2064_2066del ENSP00000494443.1:p.Glu689del
XM_005255775.2:c.2064_2066del XP_005255832.1:p.Glu689del
XM_005255775.4:c.2064_2066del XP_005255832.1:p.Glu689del
XM_017022868.1:c.2070_2072del XP_016878357.1:p.Glu691del