Canonical Allele Identifier: CA2611731433

Gene: DEAF1

Linked Data

• gnomAD v4: 11-686954-ACTGTACCAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686955_686964del , CM000673.2:g.686955_686964del	GRCh38
NC_000011.9:g.686955_686964del , CM000673.1:g.686955_686964del	GRCh37
NC_000011.8:g.676955_676964del	NCBI36
NG_034156.1:g.13791_13800del
NG_034156.2:g.25120_25129del

Transcript Alleles

HGVS	Amino-acid change
ENST00000525626.6:n.583_592del
ENST00000528864.6:n.584_593del
ENST00000529717.6:c.*403_*412del	ENSP00000432518.2:n.*403_*412del
ENST00000530813.2:c.*321_*330del	ENSP00000508507.1:n.*321_*330del
ENST00000682936.1:n.458_467del
ENST00000683307.1:c.-29_-20del	ENSP00000507198.1:n.-29_-20del
ENST00000684249.1:n.886_895del
ENST00000685854.1:c.494_503del	ENSP00000508801.1:p.Asn165IlefsTer?
ENST00000686001.1:c.494_503del	ENSP00000508459.1:p.Asn165IlefsTer?
ENST00000687329.1:c.494_503del	ENSP00000510598.1:p.Asn165IlefsTer?
ENST00000689835.1:c.494_503del	ENSP00000510621.1:p.Asn165IlefsTer?
ENST00000690068.1:c.494_503del	ENSP00000509089.1:p.Asn165IlefsTer?
ENST00000692634.1:c.494_503del	ENSP00000508859.1:p.Asn165IlefsTer?
ENST00000693164.1:n.692_701del
ENST00000382409.4:c.698_707del MANE Select	ENSP00000371846.3:p.Asn233IlefsTer?
ENST00000382409.3:c.698_707del	ENSP00000371846.3:p.Asn233IlefsTer?
ENST00000525626.5:n.553_562del
ENST00000527170.5:c.60_69del
ENST00000529717.5:c.662_671del
NM_001293634.1:c.664+947_664+956del	NP_001280563.1:n.664+947_664+956del
NM_021008.3:c.698_707del	NP_066288.2:p.Asn233IlefsTer?
XM_011519842.1:c.698_707del	XP_011518144.1:p.Asn233IlefsTer?
XM_011519843.1:c.698_707del	XP_011518145.1:p.Asn233IlefsTer?
XR_428838.2:n.704_713del
XR_930843.1:n.704_713del
XM_011519842.3:c.698_707del	XP_011518144.1:p.Asn233IlefsTer?
XM_024448325.1:c.698_707del	XP_024304093.1:p.Asn233IlefsTer?
XM_024448326.1:c.698_707del	XP_024304094.1:p.Asn233IlefsTer?
XM_024448327.1:c.698_707del	XP_024304095.1:p.Asn233IlefsTer?
NM_001367390.1:c.-29_-20del	NP_001354319.1:n.-29_-20del
NM_021008.4:c.698_707del MANE Select	NP_066288.2:p.Asn233IlefsTer?