Canonical Allele Identifier: CA923726210

Gene: CTCF

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67611610_67611613del , CM000678.2:g.67611610_67611613del	GRCh38
NC_000016.9:g.67645513_67645516del , CM000678.1:g.67645513_67645516del	GRCh37
NC_000016.8:g.66203014_66203017del	NCBI36
NG_033892.1:g.54204_54207del

Transcript Alleles

HGVS	Amino-acid Change
NM_006565.4:c.778_781del MANE Select	NP_006556.1:p.Lys260ValfsTer2
ENST00000264010.10:c.778_781del MANE Select	ENSP00000264010.4:p.Lys260ValfsTer2
NM_001191022.1:c.-32-5135_-32-5132del	NP_001177951.1:n.-32-5135_-32-5132del
NM_001191022.2:c.-32-5135_-32-5132del	NP_001177951.1:n.-32-5135_-32-5132del
NM_001363916.1:c.778_781del	NP_001350845.1:p.Lys260ValfsTer2
NM_006565.3:c.778_781del	NP_006556.1:p.Lys260ValfsTer2
ENST00000264010.8:c.778_781del	ENSP00000264010.4:p.Lys260ValfsTer2
ENST00000401394.5:c.-32-5135_-32-5132del	ENSP00000384707.1:n.-32-5135_-32-5132del
ENST00000401394.6:c.-32-5135_-32-5132del	ENSP00000384707.1:n.-32-5135_-32-5132del
ENST00000566078.1:n.1091_1094del
ENST00000566078.2:n.784_787del
ENST00000642819.1:c.778_781del	ENSP00000494408.1:p.Lys260ValfsTer2
ENST00000643892.1:c.778_781del	ENSP00000494358.1:p.Lys260ValfsTer2
ENST00000644753.1:c.778_781del	ENSP00000493495.1:p.Lys260ValfsTer2
ENST00000645306.1:c.778_781del	ENSP00000495218.1:p.Lys260ValfsTer2
ENST00000645699.1:c.778_781del	ENSP00000495348.1:p.Lys260ValfsTer2
ENST00000646076.1:c.778_781del	ENSP00000494538.1:p.Lys260ValfsTer2
ENST00000646771.1:c.778_781del	ENSP00000494443.1:p.Lys260ValfsTer2
XM_005255775.2:c.778_781del	XP_005255832.1:p.Lys260ValfsTer2
XM_005255775.4:c.778_781del	XP_005255832.1:p.Lys260ValfsTer2
XM_017022868.1:c.778_781del	XP_016878357.1:p.Lys260ValfsTer2