Allele Registry

Canonical Allele Identifier: CA10575612

Gene: CTCF HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr16:g.67611207dupT

GRCh37 chr16:g.67645110dupT

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000074333

ClinVar Variation:

88636

dbSNP:

879255570

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67611207dup , CM000678.2:g.67611207dup	GRCh38
NC_000016.9:g.67645110dup , CM000678.1:g.67645110dup	GRCh37
NC_000016.8:g.66202611dup	NCBI36
NG_033892.1:g.53801dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264010.10:c.375dup MANE Select	ENSP00000264010.4:p.Val126CysfsTer14
ENST00000401394.6:c.-32-5538dup	ENSP00000384707.1:n.-32-5538dup
ENST00000566078.2:n.381dup
ENST00000642819.1:c.375dup	ENSP00000494408.1:p.Val126CysfsTer14
ENST00000642847.1:c.375dup	ENSP00000495923.1:p.Val126CysfsTer?
ENST00000643892.1:c.375dup	ENSP00000494358.1:p.Val126CysfsTer14
ENST00000644753.1:c.375dup	ENSP00000493495.1:p.Val126CysfsTer14
ENST00000644852.1:c.375dup	ENSP00000495115.1:p.Val126CysfsTer14
ENST00000645306.1:c.375dup	ENSP00000495218.1:p.Val126CysfsTer14
ENST00000645699.1:c.375dup	ENSP00000495348.1:p.Val126CysfsTer14
ENST00000646076.1:c.375dup	ENSP00000494538.1:p.Val126CysfsTer14
ENST00000646771.1:c.375dup	ENSP00000494443.1:p.Val126CysfsTer14
ENST00000264010.8:c.375dup	ENSP00000264010.4:p.Val126CysfsTer14
ENST00000401394.5:c.-32-5538dup	ENSP00000384707.1:n.-32-5538dup
ENST00000566078.1:n.688dup
NM_001191022.1:c.-32-5538dup	NP_001177951.1:n.-32-5538dup
NM_006565.3:c.375dup	NP_006556.1:p.Val126CysfsTer14
XM_005255775.2:c.375dup	XP_005255832.1:p.Val126CysfsTer14
NM_001363916.1:c.375dup	NP_001350845.1:p.Val126CysfsTer14
XM_005255775.4:c.375dup	XP_005255832.1:p.Val126CysfsTer14
XM_017022868.1:c.375dup	XP_016878357.1:p.Val126CysfsTer14
NM_006565.4:c.375dup MANE Select	NP_006556.1:p.Val126CysfsTer14
NM_001191022.2:c.-32-5538dup	NP_001177951.1:n.-32-5538dup

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