Canonical Allele Identifier: CA378932702

Gene: DEAF1

Linked Data

• gnomAD v4: 11-686965-T-C
• MyVariant Identifiers: chr11:g.686965T>C (hg19) ; chr11:g.686965T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.686965T>C , CM000673.2:g.686965T>C	GRCh38
NC_000011.9:g.686965T>C , CM000673.1:g.686965T>C	GRCh37
NC_000011.8:g.676965T>C	NCBI36
NG_034156.1:g.13790A>G
NG_034156.2:g.25119A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525626.6:n.582A>G
ENST00000528864.6:n.583A>G
ENST00000529717.6:c.*402A>G	ENSP00000432518.2:n.*402A>G
ENST00000530813.2:c.*320A>G	ENSP00000508507.1:n.*320A>G
ENST00000682936.1:n.457A>G
ENST00000683307.1:c.-30A>G	ENSP00000507198.1:n.-30A>G
ENST00000684249.1:n.885A>G
ENST00000685854.1:c.493A>G	ENSP00000508801.1:p.Asn165Asp
ENST00000686001.1:c.493A>G	ENSP00000508459.1:p.Asn165Asp
ENST00000687329.1:c.493A>G	ENSP00000510598.1:p.Asn165Asp
ENST00000689835.1:c.493A>G	ENSP00000510621.1:p.Asn165Asp
ENST00000690068.1:c.493A>G	ENSP00000509089.1:p.Asn165Asp
ENST00000692634.1:c.493A>G	ENSP00000508859.1:p.Asn165Asp
ENST00000693164.1:n.691A>G
ENST00000382409.4:c.697A>G MANE Select	ENSP00000371846.3:p.Asn233Asp
ENST00000382409.3:c.697A>G	ENSP00000371846.3:p.Asn233Asp
ENST00000525626.5:n.552A>G
ENST00000527170.5:c.59A>G
ENST00000529717.5:c.661A>G
NM_001293634.1:c.664+946A>G	NP_001280563.1:n.664+946A>G
NM_021008.3:c.697A>G	NP_066288.2:p.Asn233Asp
XM_011519842.1:c.697A>G	XP_011518144.1:p.Asn233Asp
XM_011519843.1:c.697A>G	XP_011518145.1:p.Asn233Asp
XR_428838.2:n.703A>G
XR_930843.1:n.703A>G
XM_011519842.3:c.697A>G	XP_011518144.1:p.Asn233Asp
XM_024448325.1:c.697A>G	XP_024304093.1:p.Asn233Asp
XM_024448326.1:c.697A>G	XP_024304094.1:p.Asn233Asp
XM_024448327.1:c.697A>G	XP_024304095.1:p.Asn233Asp
NM_001367390.1:c.-30A>G	NP_001354319.1:n.-30A>G
NM_021008.4:c.697A>G MANE Select	NP_066288.2:p.Asn233Asp