Canonical Allele Identifier: CA378924287

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.674701C>G , CM000673.2:g.674701C>G	GRCh38
NC_000011.9:g.674701C>G , CM000673.1:g.674701C>G	GRCh37
NC_000011.8:g.664701C>G	NCBI36
NG_034156.1:g.26054G>C
NG_034156.2:g.37383G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_021008.4:c.1338G>C MANE Select	NP_066288.2:p.Glu446Asp
ENST00000382409.4:c.1338G>C MANE Select	ENSP00000371846.3:p.Glu446Asp
NM_001293634.1:c.1071G>C	NP_001280563.1:p.Glu357Asp
NM_001367390.1:c.612G>C	NP_001354319.1:p.Glu204Asp
NM_021008.3:c.1338G>C	NP_066288.2:p.Glu446Asp
ENST00000382409.3:c.1338G>C	ENSP00000371846.3:p.Glu446Asp
ENST00000525626.6:n.1223G>C
ENST00000525904.5:n.521G>C
ENST00000526790.1:n.169G>C
ENST00000527170.5:c.700G>C
ENST00000528864.6:n.1224G>C
ENST00000530813.1:n.413G>C
ENST00000530813.2:c.*961G>C	ENSP00000508507.1:n.*961G>C
ENST00000682936.1:n.1098G>C
ENST00000683307.1:c.612G>C	ENSP00000507198.1:p.Glu204Asp
ENST00000685854.1:c.1134G>C	ENSP00000508801.1:p.Glu378Asp
ENST00000686001.1:c.1134G>C	ENSP00000508459.1:p.Glu378Asp
ENST00000687329.1:c.1134G>C	ENSP00000510598.1:p.Glu378Asp
ENST00000689835.1:c.1134G>C	ENSP00000510621.1:p.Glu378Asp
ENST00000690068.1:c.1005G>C	ENSP00000509089.1:p.Glu335Asp
ENST00000692634.1:c.*83G>C	ENSP00000508859.1:n.*83G>C
XM_011519842.1:c.1338G>C	XP_011518144.1:p.Glu446Asp
XM_011519842.3:c.1338G>C	XP_011518144.1:p.Glu446Asp
XM_011519843.1:c.1338G>C	XP_011518145.1:p.Glu446Asp
XM_024448325.1:c.1338G>C	XP_024304093.1:p.Glu446Asp
XM_024448326.1:c.1338G>C	XP_024304094.1:p.Glu446Asp
XM_024448327.1:c.1338G>C	XP_024304095.1:p.Glu446Asp
XR_428838.2:n.1344G>C
XR_930843.1:n.1344G>C