Canonical Allele Identifier: CA2573054253

Gene: CTCF

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67620758_67620766del , CM000678.2:g.67620758_67620766del	GRCh38
NC_000016.9:g.67654661_67654669del , CM000678.1:g.67654661_67654669del	GRCh37
NC_000016.8:g.66212162_66212170del	NCBI36
NG_033892.1:g.63352_63360del

Transcript Alleles

HGVS	Amino-acid Change
NM_006565.4:c.1148_1156del MANE Select	NP_006556.1:p.Leu383_Ser385del
ENST00000264010.10:c.1148_1156del MANE Select	ENSP00000264010.4:p.Leu383_Ser385del
NM_001191022.1:c.164_172del	NP_001177951.1:p.Leu55_Ser57del
NM_001191022.2:c.164_172del	NP_001177951.1:p.Leu55_Ser57del
NM_001363916.1:c.1148_1156del	NP_001350845.1:p.Leu383_Ser385del
NM_006565.3:c.1148_1156del	NP_006556.1:p.Leu383_Ser385del
ENST00000264010.8:c.1148_1156del	ENSP00000264010.4:p.Leu383_Ser385del
ENST00000401394.5:c.164_172del	ENSP00000384707.1:p.Leu55_Ser57del
ENST00000401394.6:c.164_172del	ENSP00000384707.1:p.Leu55_Ser57del
ENST00000642819.1:c.1148_1156del	ENSP00000494408.1:p.Leu383_Ser385del
ENST00000642943.1:n.2613_2621del
ENST00000643892.1:c.1148_1156del	ENSP00000494358.1:p.Leu383_Ser385del
ENST00000644753.1:c.1148_1156del	ENSP00000493495.1:p.Leu383_Ser385del
ENST00000645306.1:c.1148_1156del	ENSP00000495218.1:p.Leu383_Ser385del
ENST00000645409.1:n.1978_1986del
ENST00000645699.1:c.1148_1156del	ENSP00000495348.1:p.Leu383_Ser385del
ENST00000646076.1:c.1148_1156del	ENSP00000494538.1:p.Leu383_Ser385del
ENST00000646566.1:n.1632_1640del
ENST00000646771.1:c.1148_1156del	ENSP00000494443.1:p.Leu383_Ser385del
XM_005255775.2:c.1148_1156del	XP_005255832.1:p.Leu383_Ser385del
XM_005255775.4:c.1148_1156del	XP_005255832.1:p.Leu383_Ser385del
XM_017022868.1:c.1148_1156del	XP_016878357.1:p.Leu383_Ser385del