Canonical Allele Identifier: CA658824349

Gene: CTCF

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67636768dup , CM000678.2:g.67636768dup	GRCh38
NC_000016.9:g.67670671dup , CM000678.1:g.67670671dup	GRCh37
NC_000016.8:g.66228172dup	NCBI36
NG_033892.1:g.79362dup

Transcript Alleles

HGVS	Amino-acid Change
NM_006565.4:c.1916dup MANE Select	NP_006556.1:p.Pro640AlafsTer?
ENST00000264010.10:c.1916dup MANE Select	ENSP00000264010.4:p.Pro640AlafsTer?
NM_001191022.1:c.932dup	NP_001177951.1:p.Pro312AlafsTer?
NM_001191022.2:c.932dup	NP_001177951.1:p.Pro312AlafsTer?
NM_001363916.1:c.1916dup	NP_001350845.1:p.Pro640AlafsTer?
NM_006565.3:c.1916dup	NP_006556.1:p.Pro640AlafsTer?
ENST00000264010.8:c.1916dup	ENSP00000264010.4:p.Pro640AlafsTer?
ENST00000401394.5:c.932dup	ENSP00000384707.1:p.Pro312AlafsTer?
ENST00000401394.6:c.932dup	ENSP00000384707.1:p.Pro312AlafsTer?
ENST00000642420.1:n.605dup
ENST00000642819.1:c.1916dup	ENSP00000494408.1:p.Pro640AlafsTer?
ENST00000643892.1:c.*117dup	ENSP00000494358.1:n.*117dup
ENST00000644753.1:c.1916dup	ENSP00000493495.1:p.Pro640AlafsTer?
ENST00000644950.1:n.1264dup
ENST00000645306.1:c.1916dup	ENSP00000495218.1:p.Pro640AlafsTer?
ENST00000645409.1:n.2836dup
ENST00000645699.1:c.1916dup	ENSP00000495348.1:p.Pro640AlafsTer?
ENST00000646076.1:c.1916dup	ENSP00000494538.1:p.Pro640AlafsTer?
ENST00000646566.1:n.2400dup
ENST00000646771.1:c.1916dup	ENSP00000494443.1:p.Pro640AlafsTer?
XM_005255775.2:c.1916dup	XP_005255832.1:p.Pro640AlafsTer?
XM_005255775.4:c.1916dup	XP_005255832.1:p.Pro640AlafsTer?
XM_017022868.1:c.1916dup	XP_016878357.1:p.Pro640AlafsTer?