Canonical Allele Identifier: CA378933257

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.687909A>C , CM000673.2:g.687909A>C	GRCh38
NC_000011.9:g.687909A>C , CM000673.1:g.687909A>C	GRCh37
NC_000011.8:g.677909A>C	NCBI36
NG_034156.1:g.12846T>G
NG_034156.2:g.24175T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_021008.4:c.664+2T>G MANE Select	NP_066288.2:n.664+2T>G
ENST00000382409.4:c.664+2T>G MANE Select	ENSP00000371846.3:n.664+2T>G
NM_001293634.1:c.664+2T>G	NP_001280563.1:n.664+2T>G
NM_001367390.1:c.-63+2T>G	NP_001354319.1:n.-63+2T>G
NM_021008.3:c.664+2T>G	NP_066288.2:n.664+2T>G
ENST00000382409.3:c.664+2T>G	ENSP00000371846.3:n.664+2T>G
ENST00000525626.5:n.519+2T>G
ENST00000525626.6:n.549+2T>G
ENST00000527170.5:c.26+2T>G
ENST00000528864.5:n.531+2T>G
ENST00000528864.6:n.550+2T>G
ENST00000529717.5:c.628+2T>G
ENST00000529717.6:c.*369+2T>G	ENSP00000432518.2:n.*369+2T>G
ENST00000530813.2:c.*287+2T>G	ENSP00000508507.1:n.*287+2T>G
ENST00000682936.1:n.424+2T>G
ENST00000683307.1:c.-63+2T>G	ENSP00000507198.1:n.-63+2T>G
ENST00000684249.1:n.852+2T>G
ENST00000685854.1:c.460+2T>G	ENSP00000508801.1:n.460+2T>G
ENST00000686001.1:c.460+2T>G	ENSP00000508459.1:n.460+2T>G
ENST00000687329.1:c.460+2T>G	ENSP00000510598.1:n.460+2T>G
ENST00000689835.1:c.460+2T>G	ENSP00000510621.1:n.460+2T>G
ENST00000690068.1:c.460+2T>G	ENSP00000509089.1:n.460+2T>G
ENST00000692634.1:c.460+2T>G	ENSP00000508859.1:n.460+2T>G
ENST00000693164.1:n.658+2T>G
XM_011519842.1:c.664+2T>G	XP_011518144.1:n.664+2T>G
XM_011519842.3:c.664+2T>G	XP_011518144.1:n.664+2T>G
XM_011519843.1:c.664+2T>G	XP_011518145.1:n.664+2T>G
XM_024448325.1:c.664+2T>G	XP_024304093.1:n.664+2T>G
XM_024448326.1:c.664+2T>G	XP_024304094.1:n.664+2T>G
XM_024448327.1:c.664+2T>G	XP_024304095.1:n.664+2T>G
XR_428838.2:n.670+2T>G
XR_930843.1:n.670+2T>G