Canonical Allele Identifier: CA5786249

Gene: DEAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.674733C>T , CM000673.2:g.674733C>T	GRCh38
NC_000011.9:g.674733C>T , CM000673.1:g.674733C>T	GRCh37
NC_000011.8:g.664733C>T	NCBI36
NG_034156.1:g.26022G>A
NG_034156.2:g.37351G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_021008.4:c.1306G>A MANE Select	NP_066288.2:p.Ala436Thr
ENST00000382409.4:c.1306G>A MANE Select	ENSP00000371846.3:p.Ala436Thr
NM_001293634.1:c.1039G>A	NP_001280563.1:p.Ala347Thr
NM_001367390.1:c.580G>A	NP_001354319.1:p.Ala194Thr
NM_021008.3:c.1306G>A	NP_066288.2:p.Ala436Thr
ENST00000382409.3:c.1306G>A	ENSP00000371846.3:p.Ala436Thr
ENST00000525626.6:n.1191G>A
ENST00000525904.5:n.489G>A
ENST00000526790.1:n.137G>A
ENST00000527170.5:c.668G>A
ENST00000528864.6:n.1192G>A
ENST00000530813.1:n.381G>A
ENST00000530813.2:c.*929G>A	ENSP00000508507.1:n.*929G>A
ENST00000682936.1:n.1066G>A
ENST00000683307.1:c.580G>A	ENSP00000507198.1:p.Ala194Thr
ENST00000685854.1:c.1102G>A	ENSP00000508801.1:p.Ala368Thr
ENST00000686001.1:c.1102G>A	ENSP00000508459.1:p.Ala368Thr
ENST00000687329.1:c.1102G>A	ENSP00000510598.1:p.Ala368Thr
ENST00000689835.1:c.1102G>A	ENSP00000510621.1:p.Ala368Thr
ENST00000690068.1:c.973G>A	ENSP00000509089.1:p.Ala325Thr
ENST00000692634.1:c.*51G>A	ENSP00000508859.1:n.*51G>A
XM_011519842.1:c.1306G>A	XP_011518144.1:p.Ala436Thr
XM_011519842.3:c.1306G>A	XP_011518144.1:p.Ala436Thr
XM_011519843.1:c.1306G>A	XP_011518145.1:p.Ala436Thr
XM_024448325.1:c.1306G>A	XP_024304093.1:p.Ala436Thr
XM_024448326.1:c.1306G>A	XP_024304094.1:p.Ala436Thr
XM_024448327.1:c.1306G>A	XP_024304095.1:p.Ala436Thr
XR_428838.2:n.1312G>A
XR_930843.1:n.1312G>A